Appendix I: Reference Intervals

Home , Addis count, Crystalluria, Hyperuricosuria, Isosthenuria, Renal glycosuria, Urine osmolality

AMIN Y. BARAKAT

The following reference intervals are guidelines usually needed in the diagnosis and management of renal disease. Values may vary according to the methodology used. Laboratory values are given in conventional and international units. A few references have been used in the formu• lation of this table (1-5); values from other sources have been referenced separately. The prefixes for units are the standard ones approved by the Conference Generale des Poids et Mesures, 1964, the International Union of Pure and Applied Chemistry and the International Federation of Clin• ical Chemistry. Few other abbreviations are used: B, blood; Ca, calcium; d, day; EDT A, ethylenediaminetetraacetate, edetic acid; f, female; hr, hour; m, male; min, minute; mo, month; RBC, red blood cell; P, plasma; S, serum; U, urine; wk, week; yr, year.

Conventional International Test Specimen units units

g/dl giL Albumin S Premature 3.0-4.2 30-42 NB 3.6-5.4 36-54 Infant 4.0-5.0 40-50 Thereafter 3.5-5.0 35-50

U Look under urine protein ng/dl nmoljL Aldosterone P (heparin, EDT A) Newborn: 5-60 0.14-1.7 S I wk-I yr: 1-160 0.03-4.4 1-3 yr: 5-60 0.14-1.7 3-5 yr: <5-80 <0.14-2.2 5-7 yr: <5-50 <0.14-1.4 7-11 yr: 5-70 0.14-1.9 II-IS yr: <5-50 <0.14-1.4 414 Amin Y. Barakat

Conventional International Test Specimen units units

ngJdl nmol/L Adult: Average sodium diet Supine: 3-10 0.08-0.3 Upright F: 5-30 0.14-0.8 M: 6-22 0.17-0.61 2-3 X higher during pregnancy Adrenal vein: 200-800 ngJdl 5.5-22 Low sodium diet: increases 2-5 fold Florinef suppression: <4 ngJdl <0.11 ACTH or angiotensin stimulation, I hr: 2-5 fold

ngJdl or (6,7) P Premature 110-250 Full-term 110-200 3-12 mo 49-71 Adult 13.38-14.84

U, 24 hr Plasma renin Total activity ng UNa angiotensin U Aldosterone U Aldosterone -----mmol/d I/ml/hr mgJd nmol/d < 20 5-24 35-80 <97-220 50 2-7 13-33 36-91 100 1-5 5-24 14-66 150 0.5-4 3-19 8-53 200 1-16 3-44 250 1-13 3-36 (assuming normal serum Na, K and extracellular volume)

"gJd or (7) Premature 2.5- 4.1 Newborn 6.4- 9.2 Adult 9.8-12.0

U/L

Alkaline S Infant: 150-400 Same phosphatase Child, 2-10 yr 100-300 11-18 yr, 50-375 M: 30-300 F: 30-100 Adult:

Angiotensin I P (EDTA) Peripheral vein 11-88 pgJml 11-88 ngJL

Angiotensin II P (EDTA) Arterial: \.2-3.6 ngJdl 12-36 ngJL Venous: 50-75% of arterial Fraction of arterial conc. conc.0.50-0.75

Anion gap P (heparin) 7-16 mmol/L Same [Na- (Cl+ CO,)] Appendix I: Reference Intervals 415

Conventional International Test Specimen units units

Antidiuretic P (EDTA) Plasma Plasma ADH Plasma hormone (ADH, mOsm/kg pg/ml ADH, ng/L vasopressin) 270-280: <1.5 Same 280-285: <2.5 285-290: 1-5 290-295: 2-7 395-300: 4-12

Anti-nDNA <1:20 antibody

Anti-nuclear <1:20 antibody titer (ANA)

Anti-streptolysin S :s 166 Todd units (ASO) titer (170-330 in school-aged children)

mmol/L Base excess B (heparin) Newborn: -10 to -2 Same Infant: -7 to -I Child: -4 to +2 Thereafter: -2 to +3

mEq/L mmol/L Bicarbonate S Premature 18-26 Same (HCO;) Infant 20-26 1-2 yr 20-25 >2 yr 22-26

Blood volume B (heparin) M: 52-83 ml/kg M: 0.052-0.083 L/kg F: 50-75 ml/kg F: 0.050-0.075 L/kg

pg/mL ng/L Calcitonin S, P Newborn term: (heparin, EDTA) cord 30-240 Same 48 h: 91-580 7 d: 77-293 Premature, cord: 30-265 48 hr: 108-670 7 d: 79-570 Adult, M: <100 F: 4 X lower (increases in pregnancy) Concentrations decrease with age

mg/dl mmol/L Calcium, ionized S, P, B Newborn 3-24 hr: 4.3-5.1 1.07-1.27 24-48 hr: 4.0-4.7 1.00-1.17 Thereafter: 4.48-4.92 or 1.12-1.23 2.24-2.46 mEq/L 1.12-1.23

mg/dl mmol/L Calcium, total S Cord: 9.0-11.5 2.25-2.88 416 Amin Y. Barakat

Conventional International Test Specimen units units

mg/dl mmol/L Newborn Premature: 6.1-11.6 1.52-2.90 3-24 hr: 9.0-10.6 2.3 -2.65 24-48 hr: 7.0-12.0 \.75-3.0 4-7 d: 9.0-10.9 2.25-2.73 Child: 8.8-10.8 2.2 -2.70 Thereafter: 8.4-10.2 2.1 -2.55 U Look under urine calcium mmHg kP. Carbon dioxide, B (heparin) partial pressure Newborn: 27-40 3.6-5.3 (pCO) Infant: 27-41 3.6-5.5 Thereafter M: 35-48 4.7-6.4 F: 32-45 4.3-6.0 mmol/L Carbon dioxide, S, P (heparin) Cord: 14-22 Same total (tCO) Premature: 14-27 Newborn: 13-22 Infant: 20-28 Child: 20-28 Thereafter: 23-30 pgfml pmol/L Catecholamines, P (EDTA) Norepinephrine fractionated Supine 100-400 591-2364 Standing 300-900 1773-5320

Epinephrine Supine < 70 <382 Standing <100 <546

Dopamine < 30 <196 (no postural change)

U, 24 hr Norepinephrine ILg/d mmol/d 0-1 yr: 0-10 0-59 1-2 yr: 0-17 0-100 2-4 yr: 4-29 24-171 4-7 yr: 8-45 47-266 7-10 yr: 13-65 77-384 Thereafter: 15-80 87-473

Epinephrine 0-1 yr: 0-2.5 0-13.6 1-2 yr: 0-3.5 0-19.1 2-4 yr: 0-6.0 0-32.7 4-7 yr: 0.2-10 1.1-55 7-10 yr: 0.5-14 2.7-76 Dopamine 0-1 yr: 0-85 0-555 1-2 yr: 10-140 65-914 2-4 yr: 40-260 261-1697 Thereafter: 65-400 424-2611 Appendix I: Reference Intervals 417

Conventional International Test Specimen units units

I'gJd Catecholamines, V, 24 hr 0-1 yr: 10-15 Same total free 1-5 yr: 15-40 6-15 yr: 20-80 Thereafter: 30-100 mg/dl I'mol/L Ceruloplasmin S Newborn: 1-30 0.06-\.99 6-12 rna: 15-50 0.99-3.31 1-12 yr: 30-65 \.99-4.30 Thereafter: 14-40 0.93-2.65 mmol/L Chloride S, P (heparin) Cord: 96-104 Same Premature: 100-117 Newborn: 97-110 Thereafter: 98-106 V Look under urine chloride mmol/L Sweat Normal 0-35 Same Marginal 30-60 Cystic fibrosis 60-200 Increases by 10 mmol/L during lifetime

mg/dl mmol/L Cholesterol, total S, P (EDTA or Cord: 45-100 1.17-2.59 heparin) Newborn: 53-135 1.37-3.50 Infant: 70-\75 \.81-4.53 Child: 120-200 3.11-5.18 Adolescent: 120-210 3.11-5.44 Adult: 140-250 3.63-6.48 Complement, total P (EDTA) 75-160 V/ml or hemolytic <33% of plasma Same CH,o classic pathway mg/dl mg/L components Clq S Cord: \.0-14.9 10-149 I mo: 2.2- 6.2 22- 62 6 mo: 1.2- 7.6 12- 76 Adult: 5.1- 7.9 51- 79

mg/dl mg/L C3 ------RID S Cord: 65-112 0.65-1.12 I rna: 61-130 0.61-1.30 Adult: 111-171 1.11-1.71 Maternal: 161-175 1.61-1.75 At birth, cone. is 50-75% of adult values

Nephelom- S Newborn: 58-120 0.58-1.20 etry

C4 RID S Newborn: 16-39 160-390 mg/L Adult: 15-45 150-450 418 Amin Y. Barakat

Conventional International Test Specimen units units

mgjdl mgjL

Nephelom- S Newborn: 10-26 100-260 etry Adult: 13-37 130-370

mgjdl mgjL Properdin S Cord: 1.3-\.7 13-17 I mo: 0.6-2.2 6-22 6 mo: 1.3-2.5 13-25 Adult: 2.0-3.6 20-36

"gjdl "mol/L Copper S Birth-6 mo: 20-70 3.14-10.99 6 yr: 90-190 14.13-29.83 12 yr: 80-160 12.56-25.12 Adult, M: 70-140 10.99-21.98 F: 80-155 12.56-24.34 U, 24 hr 0-30 "g/d 0-0:47 "mol/d

"gjdl nmol/L Cortisol S, P (heparin) Newborn: 1-24 28-662 Adults: 08:00 hr 5-23 138-635 16:00 hr 3-15 82-413 20:00 hr ::s50% of 08:00 h Fraction of 08:00 hr ::sO. 50

"g/d nmol/d Cortisol. free U, 24 hr Child: 2-27 5.5-74 Adolescent: 5-55 14-152 Adult: 10-100 27-276

mg/dl "mol/L Creatinine S, P Cord: 0.6-1.2 53-106 Jaffe, kinetic or Newborn: 0.3-1.0 27-88 enzymatic Infant: 0.2-0.4 18-35 Child: 0.3-0.7 27-62 Adolescent: 0.5-1.0 44-88 Adult M: 0.6-1.2 53-106 F: 0.5-1.1 44-97 Jaffe, manual S, P 0.8-1.5 mg/dl 70-133 U, 24 hr mg/kgfd "mol/kgjd Premature: 8-20 71-180 Full-term: 10-16 90-144 Infant: 8-20 71-180 Child: 8-22 71-195 Adolescent: 8-30 71-265 Adult, M: 14-26 124-230 F: 11-20 97-177

mgjd mmol/d or M: 800-1800 7 -15.9 F: 600-1600 5.2-14.1 Appendix I: Reference Intervals 419

Conventional International Test Specimen units units

Cyclic AMP P (EDTA) ng/ml nmoljL M: 5.6-10.9 17-33 F: 3.6-8.9 11-27 U, 24 hr <3.3 mgjd or <1.64 mgjg 1000-11,500 creatinine nmoljd, <6000 nmol cAMP/g creatinine

Erythropoietin S mU/ml U/L RIA <5-20 Same Hemagglutination 25-125 Bioassay 5-18

Oi-Fetoprotein (8) S Fetal peak of 200-400 mg/dl in first trimester

ngjml Premature 134,734 ±41,444 Newborn 48,406 ± 34,718 2-4 wk 2,654 ± 3,080 2 mo 323 ± 278 3 mo 88 ± 87 4 mo 74 ± 56 5 mo 46.5± 19 6 rno 12.5± 9.8 7 rno 9.7± 7.1 8 mo 8.5± 5.5 I yr <30 Adult <40

weeks: mg/dl mgjL Amniotic fluid 10-12 0.5-3.3 5-33 13-14 0.3-3.7 3-37 15-16 0.4-2.7 4-27 17-18 0.1-2.6 1-26 19-20 <0.1-1.14 <1-14 21-22 <0.1-1.1

Fibrin degradation B (thrombin and proteolytic inhibitor <10 ILg/mL <10 mgjL products in tube) Agglutination U: 2 ml in similar tube <0.25 ILg/ml <0.25 mgjL (Thrombo• Wellco test®)

Fibrinogen B (sodium citrate) Newborn: 125-300 mg/dl 1.25-3.00 gjL Adult: 200-400 2.00-4.00

Folate S Newborn: 7.0-32 ng/ml 15.9-72.4 nmoljL

Thereafter: 1.8-9 4.1-20.4

RBC (EDTA) 150-140 ng/ml 340-1020 nmoljL cells cells 420 Amin Y. Barakat

Functions, renal (9) Concentrating capacity m Osm/kg water GFR' PAH Clearance" TmPAH' mljmin/1.73m' mljmin/1.73m' mg/min/1.73m' Basal Dehydration Pitressin Preterm 190-300 370-680 27 wk 2-10 32 4-12 34 5-15 36 6-40 37 12-26 Term NB 8-42 33-162 6-26 180-400 210-650 4- 7 d 20-53 38-162 8-12 d 40-60 120-188 15-30 d 30-90 103-260 3.7-22 776 780-1100 2 mo 42-90 203-321 13.3-93 870-1200 400-960 3 46-125 154-345 41-58 450-1030 4 56-120 204-327 950-1260 500-1060 6 89-144 392-601 57-68 550-1120 8 58-160 262-781 46 600-1160 12 63-150 332-557 21-88 1000-1310 640-1220 18 105-235 503-724 52 1020-1330 700-1280 2 yr 105-172 503-724 77-84 1040-1390 3 101-179 624-754 820-1340 4 100-184 632-723 84 1060-1410 5 120-184 6 79-170 497-872 65 7 110-156 31-100 8 90-148 680-711 75 1100-1420 820-1340 9 88-166 490-744 88 10 95-162 566-704 95 11 110-146 562-784 82 12 110-136 551-747 95 1110-1430 820-1340 13-19 110-136 482-662 1130-1460 Adult M 110-152 561-833 80± 12 800-1400 1200-1500 F 101-133 92-696 77± II 800-1400 1200-1500 a GFR (glomerular filtration rate): >age 40 yr, decreases -6.5 ml/min/1.73 m 2/decade b PAH clearance (paraaminohippurate; renal plasma flow), >age 40 yr, decreases -75 ml/min/1.73 m 2/decade c Tm PAH (maximum tubular excretory capacity) a,b In malnourished children, 45% of normal (10)

Conventional International Test Specimen units units mg/dl mmoljL Glucose S, Fasting Cord: 45-96 2.5-5.33 Premature: 20-60 1.1-3.3 Neonate: 30-60 1.7-3.3 I d: 40-60 2.2-3.3 >1 d: 50-80 2.8-5.0 Child: 60-100 3.3-5.5 Adult: 70-105 3.9-5.8 U Look under urine glucose Appendix I: Reference Intervals 421

Conventional International Test Specimen units units

Glucose, 2 hr S <120 mgjdl <6,7 mmolfL postprandial 6-12 yr: 35-45% Adult M: 41-53% F: 36-46%

g/dl mmolfL Hemoglobin (Hb) B (EDTA) Cord: 14,5-22,5 2.25-3.49 1-3 d (capillary): 14.5-22.5 2.25-3.49 2 mo: 9.0-14.0 1.40-2.17 6-12 yr: 11.5-15.5 1.78-2.09 12-18 yr M: 13.0-16.0 2.02-2.48 F: 12.0-16.0 1.86-2.48 18-49 yr M: 13.5-17.5 2.09-2.71 F: 12.0-16.0 1.86-2.48

mg/dl mg/L Immunoglobulins S Cord: 0-5 0-50 A (IgA) Newborn: 0-2.2 0-22 1/2-6 mo: 3-82 30-820 6 mo-2 yr: 14-108 140-1080 2-6 yr: 23-190 230-1900 6-12 yr: 29-270 290-2700 12-16 yr: 81-232 810-2320 Thereafter: 60-380 600-3800

D (IgD) Newborn: None detected None detected Thereafter: 0-8 mg/dl 0-0.44 Ilmo1/L

E (IgE) M: 0-230 IU/ml 0-230 kIU/L F: 0-170 0-170

mg/dl gil G (IgG) Cord: 760-1700 7.6-17 Newborn: 700-1480 7-14.8 1/2-6 mo: 300-1000 3-10 6 mo-2 yr: 500-1200 5-12 2-6 yr: 500-1300 5-13 6-12 yr: 700-1650 7-16.5 12-16 yr: 700-1550 7-15.5 Adults: 600-1600 6-16 (higher in blacks)

Ketone bodies S 0.5-3 mg/dl 5-30 mg/L

mg/dl mmolfL Lactate B (heparin) Capillary, newborn: 50 30 50 3.0 child: 5-20 0.56-2.25 Venous 5-18 0.5 -2 Arterial 3-7 0.3 -0.8

Lactate/pyruvate B (heparin) 10

Lysozyme (11) P Neonate: 0.9-2.3 mg/dl Adult: 1.1-1.7 422 Amin Y. Barakat

Conventional International Test Specimen units units

mEq/L mmol/L Magnesium S Newborn: 1.5-2.3 0.75-1.15 Adult: 1.4-2.0 0.7 -I Nitrogen (NPN) S <35 mg/dl <25.0 mmol/L

mOsm/kg H 20 Osmolality S, Child, Adult: 275-295 V Look under urine osmolality Osmolality ratio VIS 1.0-3.0 > 3.0 after 12-hr fluid restriction mmHg kP. Oxygen, partial B, arterial (heparin) Birth: 8-24 1.1-3.2 pressure (pO,) 5-10 min: 33-75 4.4-10.0 30 min: 31-85 4.1-11.3 >1 hr: 55-80 7.3-10.6 I d: 54-95 7.2-12.6 Thereafter: 83-108 11-14.4 (decreases with age) Oxygen saturation B, arterial (heparin) Fraction saturated: Newborn: 40-90% 0.40-0.90 Thereafter: 95-99% 0.95-0.99 Parathyroid S Varies with laboratory: hormone (PTH) Mayo Clinic Bioscience: N-terminal 230-630 pglml 230-630 ngiL C-terminal 410-1760 pg/ml 410-1760 ngiL Nichols Institute: C-terminal 40-100 JllEqfml 40-100 mEqfL Peritoneal surface Infant: 383 cm'/kg area (12) Adult: 177 cm'/kg H+ concentration pH B (arterial heparin) Premature (48 hr) 7.35-7.50 31-44 nmol/L Newborn: full-term 7.11-7.36 43-77 5-10 min: 7.09-7.30 50-81 30 min: 7.32-7.38 41-61 >1 hr: 7.26-7.49 32-54 I d: 7.29-7.45 35-51 Thereafter: 7.35-7.45 35-44 Must be corrected to body temperature V Look under urine pH mg/dl mmol/L Phosphorus, S Cord: 3.7-8.1 1.2-2.6 inorganic Premature (I wk): 5.4-10.9 1.7-3.5 Newborn: 4.3-9.3 1.4-3.0 Child: 4.5-6.5 1.45-2.1 Thereafter: 3.0-4.5 0.97-1.45 On nonrestricted diet: 0.4-1.3 gld 12.9-42.10 mmol/d Plasma volume P (heparin) M: 25-43 ml/kg 0.025-0.043 L/kg F: 28-45 0.028-0.045 Appendix I: Reference Intervals 423

Conventional International Test Specimen units units

mmol/L Potassium S Premature: 4.6-6.7 Same Full-term newborn: 3.9-5.9 Infant: 4.1-5.3 Child: 3.4-4.7 Thereafter: 3.5-5.1 P (heparin) 3.5-4.5 U Look under urine potassium ng/hr/1.73 m' Prostaglandin E2 Premature: 16.4-21.4 (13,14) Newborn: 20.6-41.2 3-12 mo: 31.1-43.9 Adult: 227-295 Protein selectivity index (el ratio of /gGjalbumin) (15,16) < 10%: highly selective > 20%: poorly selective gldl giL Protein. serum S Premature: 4.3-7.6 43-76 total Newborn: 4.6-7.4 46-74 Child: 6.2-8.0 62-80 Adult: Recumbent: 6.0-7.8 60-78 Ambulatory: -0.5 g higher -5 g higher gldl giL Electrophoresis Albumin Premature: 3.0-4.2 30-42 Newborn: 3.6-5.4 36-54 Infant: 4.0-5.0 40-50 Thereafter: 3.5-5.0 35-50 ",-Globulin Premature: 0.1-0.5 1-5 Newborn: 0.1-0.3 1-3 Infant: 0.2-0.4 2-4 Thereafter: 0.2-0.3 2-3 ",-Globulin Premature: 0.3-0.7 3-7 Newborn: 0.3-0.5 3-5 Infant: 0.5-0.8 5-8 Thereafter: 0.4-1.0 4-10 (3-Globulin Premature: 0.3-1.2 3-12 Newborn: 0.2-0.6 2-6 Thereafter: 0.5-1.1 5-11 -y-Globulin Premature: 0.3-1.4 3-14 Newborn: 0.2-1.0 2-10 Infant: 0.3-1.2 3-12 Thereafter: 0.7-1.2 7-12 (higher in blacks Protein. urine U, 24 hr Look under urine protein Total 424 Amin Y. Barakat

Conventional International Test Specimen units units

Average % of total protein Fraction of total Electrophoresis Albumin 37.9 0.379 Globulin a, 27.3 0.273 a, 19.5 0.195 i1 8.8 0.088 I' 3.3 0.033 ng/mlfhr Ilg/L/hr Renin activity; P (EDTA) Premature (17) 18.2±5.1 Same (PRA) 0-3 yr: <16.6 3-6 yr: < 6.7 6-9 yr: < 4.4 9-12 yr: < 5.9 12-15 yr: < 4.2 15-18 yr: < 4.3 Normal sodium diet Supine: 0.2-2.5 Upright: 0.3-4.3 Low sodium diet Upright: 2.9-24 ngjml/hr or (6,7,18) Premature, 1-3 d: 61.3-67.30 Full-term, 1-3 d: 9:95-13.45 3-12 mo: 5.02-7.48 Adult, supine: 0.15-1.65 upright: 0.66-8.10

Size, kidney (9) Age Kidney weight (g) Kidney length (em)

Preterm 27 wk 10.5 28 11 32 16 34 19 36 22 Term newborn 24 4.8 15--30 d 26 5 2 mo 29 4 5.3 6 40 8 60 5.9 12 72 6 2 yr 85 7 4 100 8 Appendix I: Reference Intervals 425

Age Kidney weight (g) Kidney length (cm)

5 106 8.5 6 112 8.9 7 120 9.3 8 128 9.7 9 138 10.1 10 ISO 10.44 II 164 10.81 12 178 11.19 13-19 196-282 11.19 Adult, M: 290 13.4 F: 248 13.4

Conventional International Test Specimen units units

mmolfL Sodium S, P (heparin) Newborn, premature, full-term: 134-146 Same Infant: 139-146 Child: 138-145 Thereafter: 136-146 U Look under urine sodium Sweat Normal 10-40 Cystic fibrosis >70 mgjdl mmol urea/L Urea nitrogen S, P Cord: 21-40 7.5-14.3 Premature (l wk): 3-25 1.1-9 Newborn: 3-12 1.1-4.3 Infant/child: 5-18 1.8-6.4 Thereafter: 7-18 2.5-6.4 Urea nitrogen/ S 10-15 creatinine mg/dl /Lmol/L Uric acid S Newborn: 2.0-6.2 119-369 Phosphotungstate Adult M: 4.5-8.2 268-488 F: 3.0-6.5 178-387 Uricase Child: 2.0-5.5 119-327 Adult M: 3.5-7.2 208-428 F: 2.6-6.0 155-357 426 Amin Y. Barakat

Urine Acidifying capacity (9) pH H+ Excretion (JLEq/min/1.73 m2) After NH.CI or After NH.CI or Age Control CaCl2 Control CaCl2 Term newborn 4.9-6.8 4-7 d 5.7-7.4 2 mos 4.9-6.3 5.02-5.4 54-168 67-230 3 5.4-6.6 4.6-6.4 30-113 4 5.2-7.3 4.7-6.4 8-68 83-172 5 5.0-5.4 5.0-5.1 86-125 165-197 6 6.5-7.2 4.9-5.0 8 5.5-6.8 4.6-5.0 43-73 109-113 2-5 yr 5.3-6.7 4.7-5.6 9~48 62.1-164 6-11 5.67-6.83 4.7-5.04 23-58 108.7-150.8 12-16 5.23-5.90 4.80-5.0 59-111 89-148 Adult (M and F) 5.4-7.02 4.5-7.0 10-50 60-130

Acidity, titratable Premature: O-12I'M/min/m' Full term: 0-11 Child: 20-50 mEq/d Addis count (12-hr specimen) Red cells: < I million White cells: < 2 million Casts: 10,000 Protein: <55 mg Ammonia 2-12 mo: 4-20 I'Eqjmin/m' 1-16 yr: 6-16 I'Eq/min/m' Amount Preterm: 1-3 mljkg/d Term newborn (1-2 d): 15-60 mL Neonate, 4-12 d: 100-300 15-60 d: 250-450 Infant, 6-12 mo: 400-600 Child, 2-4 yr: 500-750 6-7 yr: 650-1000 8-19 yr: 700-1500 Adult: 1000-1600 Varies with intake and other factors: Extreme dehydration, 0.2-0.3 ml/min; extreme hydration, 16 mljmin

Bladder capacity (19) 32 X age in yr + 73 (ml) 2 + age yr (oz) Calcium Usually < 4 mg/kg/d, or 1st wk: < 2 mg/d Child: 10-25 md/d Adult: 50-400 mg/d Fractional excretion: < 2% Appendix I: Reference Intervals 427

Calcium/creatinine (20,21) Preterm newborn 0.3-2.3 Term newborn 0.05-1.2 Infant and child < 0.21 Chloride Infants: 1.7-8.5 mmolj24 hr Children: 17-34 Adults: 140-240 Varies with chloride intake Citrate (22) 439 ± 49 mgjg creatinine Copper Look under copper Cortisol Look under cortisol Creatinine Look under creatinine CyciicAMP Look under cyclic AMP Cystine (23) <75 mgjg creatinine Frequency 3-6 mo 20 timesjd 6-12 16 1-2 yr 12 2-4 9 12 4-6 Glucose Qualitative Negative Dipstick detects 75-125 mgjdl Quantitative Newborn, full term 12-32 mgjdl preterm 60-130 mgjdl Adult

Glucose, renal threshold (24) mgjml Premature 2.21-2.84 Infant 2.20-3.68 Child 2.36-3.30 Adult 1.98-2.78 Hemoglobin Negative Hypoxanthine (23) 5.9-13.2 mgjd Ketone bodies 2 mgjdl 20 mgjd Lysozyme/creatinine (tubular ILgjmg ------proteinuria) (II) Neonate 1.2-19 I yr 0.1-23 2-12 yr 0.1-5 Adult 0.1-14

Magnesium (25) 180 ± 10 mg/1.73 m'jd 428 Amin Y. Barakat

Magnesium/calcium (26) 1.56

Osmolality mOsm/L Infant 50-600 Child 50-1400 12-hr restriction > 850 24-hr urine -300-900 Malnourished children (10) 201-275

Oxalate (23) <50 mg/1.73 m'/d pH Newborn/neonate: 5-7 0.\-10 mmol/L Thereafter: 4.5-8 0.01-32 Average -6 - 1.0 F 7.0-7.5 31-100

Phosphorus Look under phosophorus

Phosphorus, tubular reabsorption 78-97% Porphyrins Qualitative Negative Coproporphyrins < 160 I'g/d U roporphyrins < 301'g/d

Potassium (7) 26-123 mmol/L 0.4-5.2 mEqfkg/d varies with diet

Fractional excretion (7) < 30% (Normal renal function and regular diet) Newborn 18.5-32.9 1-12 mo 7.5-25.7 2-20 yr 7.0-23.8 Protein qualitative < 20 mg/dl quantitative < 100 mg/m'/d Proteins, Bence-Jones Negative

Protein/creatinine ratio (27) <0.2 (>3.5 in nephrotic syndrome)

Sediment Casts Hyaline: occasional (0-I) casts/hpf RBC: not seen WBC: not seen Tubular epithelial: not seen Transitional and squamous epithelial: not seen RBC: 0-2/hpf WBC: M 0-3/hpf F and children 0-5/hpf Bacteria, unspun: no organisms/oil immersion field spun: <20 organisms/hpf

Sodium Infants: 0.3-3.5 mmol/d (6-10 mmol/m') Children and adults: 5.6-17 mmol/d (varies with intake and other factors) Appendix I: Reference Intervals 429

Sodium/potassium (7) Prematures and newborns 1.4-7,9 Infants 1-12 mo 1.I±1.5 Children 0.5-2.5 Infants on milk 0.7 Generally (28) >1 Specific gravity, random Newborn: I. 006-1. 008 Adult: 1.002-1.030 After 12 hr of fluid restriction: > 1.025 After 24 hr: 1.015-1.025 Uric acid (29) 5-12 mgJkgJd Child 520-± 147 mg/d Adult 250-750 mgjd Urobilinogen 1-4 mg/d

Vanillylmandelic U, 24 hr md/d I'mol/d acid (VMA) Newborn: <1.0 <5.0 Infant: <2.0 <10.1 Child: 1-3 5-15 Adolescent: 1-5 5-25 Thereafter: 2-7 10-35 or: 1.5-7I'g/mg 0.86-4 mmol/mol creatinine creatinine Xanthine (23) 4.1-8.6 mg/d pgJml Vasopressin (14,30) P Full-term, 1-3 d 5.0 Adult, supine 0.8-3.2 upright 1.9-10.5 ng/24 hr U, 24 hr, Newborn 1.0-1.4 3-12 mo 4.8-6.0 Adult 32.5-39.5 Vitamin D s 25(OH) D 30 ± 5 ng/ml 1,25(OH) 2 D 20-80 pg/ml 24,25(OH) 2 D 1-5 ng/ml 430 Amin Y. Barakat

References 1. Tietz NW, Logan NM (1987) Reference ranges. In: Tietz NW (ed) Funda• mentals of Clinical Chemistry, 3rd edn. WB Saunders, Philadelphia, pp 928- 975 2. Mabry CC (1987) Reference ranges for laboratory tests. In: Behrman RE, Vaughn VC III (eds) Nelson Textbook of Pediatrics, 13th edn. WB Saunders, Philadelphia, pp 1535-1558 3. Silver HK, Kempe CH, Bruyn HB, Fulginiti VA (1987) Handbook of Pedi• atrics, 15th edn. Appleton & Lange, Norwalk, pp 834-854 4. Rowe PC (ed) (1987) The Harriet Lane Handbook, lIth edn. Year Book Medical Publishers, Chicago 5. Scully RE, McNeely BU, Mark EJ (eds) (1986) Normal reference laboratory values. N Eng! J Med 314: 39-49 6. Siegler RL, Crouch RH, Hackett TN, Jr, Wilker M, Jubiz W (1977) Potassium• renin-aldosterone relationships during the first year of life. J Pediatr 91: 52- 55 7. Sulyok E, Nemeth M, Tenyi I, Csaba IF, Varga F, Gyory E, Thurzo V (1979) Relationship between maturity, electrolyte balanceand the function of the renin-angiotensin-aldosterone system in newborn infants. Bioi Neonate 35: 60-65 8. Wu JT, Book L, Sudar K (1981) Serum alpha-fetoprotein (AFP) levels in normal infants. Pediatr Res 15: 50-52 9. Papadopoulou ZL, Tina LU, Sandler P, Jose PA, Calcagno PL (1978) Size and function of the kidneys. In: Johnson TR, Moore WM, Jeffries JE (eds) Children are Different: Developmental Physiology, 2nd edn. Ross Labora• tories, Columbus, pp 97-102 10. Alleyne GAO (1987) Renal function in malnourished children. In: Holliday MA, Barratt TM, Vernier RL (eds) Pediatric Nephrology, 2nd edn. Williams and Wilkins, Baltimore, pp 170-172 11. Barratt TM, Crawford R (1970) Lysosome excretion as a measure of renal tubular dysfunction in children. Clin Sci 39: 457-465 12. Esperanca MJ, Collins DL (1966) Peritoneal dialysis efficacy in relation to body weight. J Pediatr Surg 1: 162-169 13. Joppich R, Scherer B, Weber PC (1979) Renal prostaglandins: Relationship to the development of blood pressure and concentrating capacity in pre- and full-term healthy infants. Eur J Pediatr 132: 253-259 14. Godard C, Vallotton MB, Favre L (1982) Urinary prostaglandins, vasopressin and kallikrein excretion in healthy children from birth to adolescence. J Pe• diatr 100: 898-902 15. Soothill JF (1962) The estimation of eight serum proteins by gel diffusion precipitation technique. J Lab Clin Med 59: 859-870 16. Cameron JS, Blandford G (1966) The simple assessment of selectivity in heavy proteinuria. Lancet 2: 242-247 17. Sulyok E, Seri I, Tulassay T, et al (1985) The effect of dopamine administration on the activity of the renin-angiotensin-aldosterone system in sick preterm infants. Eur J Pediatr 143: 191-193 18. Richer C, Hornych H, Amiel-Tison C, et al (1977) Plasma renin activity and its postnatal development in pre-term infants. Bioi Neonate 31: 301-304 Appendix I: Reference Intervals 431

19. Berger RM, Maizels M, Moran GC, et al (1983) Bladder capacity (ounces) equals age (years) plus 2 predicts normal bladder capacity and aids in diagnosis of abnormal voiding patterns. J Urol 129: 347-349 20. Karlen J, Aperia A, Zetterstrom R (1985) Renal excretion of calcium and phosphate in preterm and term infants. J Pediatr 106: 814-819 21. Stapelton FB, Noe HN, Jerkins G, et al (1982) Urinary excretion of calcium following an oral calcium loading test in healthy children. Pediatrics 69: 594- 597 22. Miller LA, Stapleton FB (1985) Urinary citrate excretion in children with hypercalciuria. J Pediatr 107: 263-266 23. Stanbury JB, Wyngaarden JB, Fredrickson DS, et al (eds) (1983) The Meta• bolic Basis ofInherited Disease, 5th edn. McGraw-Hill, New York 24. Brodehl J, Oemar BS, Hoyer PF (1987) Renal glucosuria. Pediatr Nephrol 1: 502-508 25. Rudman D, Dedonis JL, Fountain MT, et al (1980) Hypocitraturia in patients with gastrointestinal malabsorption. New Engl J Med 303: 657-661 26. De Sants NG, Di loris B, Capodicasa G, et al (1987) Renal excretion of calcium, oxalate and magnesium between 3 and 16 years: the value of over• night urine. Contrib Nephrol 58: 8-15 27. Ginsberg JM, Chang BS, Matarese RA, et al (1983) Use of single voided urine samples to estimate quantitative proteinuria. New Engl J Med 309: 1543- 1546 28. Schwartz GJ, Feld LG (1987) Potassium. In: Holliday MA, Barratt TM, Ver• nier RL (eds) Pediatric Nephrology, 2nd ed. Williams and Wilkins, Baltimore, pp 114-127 29. Stapleton FB, Linshaw MA, Hassanein K, et al (1978) Uric acid excretion in normal children. J Pediatr 92: 911-914 30. Pohjavuori M, Fyhrquist F (1980) Hemodynamic significance of vasopressin in the newborn infant. J Pediatr 97: 462-465 Appendix II: Formulas

AMIN Y. BARAKAT

A. Conversions ...... 433 B. Measurements ...... 434 C. Clearance (C) ...... 435 D. Fluids and Electrolytes ...... 435 E. Tubular ...... 437 F. Renal Failure Indices ...... 438 G. Others ...... 438 References ...... 439

The following conversions and formulas are commonly used in nephrol• ogy to assist in the clinical workup of a patient. The clinician should keep in mind that these are estimates, and the results should be interpreted in the context of the clinical picture (1-4).

A. Conversions

mg/dl mg/dl x 10 mEq/1 = MW X 10 X valence or Eq W (MW: molecular weight; Eq W: equivalent weight)

dl = mEq/L X E W mg/ 10 q

Eq W = Atomic weight valence 5 (F-32) (C x 9) . Temperature: C = 9 F = 5 + 32 (C: centIgrade; F: Fahrenheit) 434 Amin Y. Barakat

1 in = 2.54 cm; 1 cm = 0.3973 in 1 lb = 0.454 kg = 16oz; 1 kg = 2.204 lb 1 oz = 28.350 g 1 L = 1.06 qt = 33.81 oz 1 dl = 100 ml mm Hg X 1.36 = cm water; cm water X 0.735 = mm Hg

Compound mEq/g salt mg salt/mEq NaCl 17 58 NaHC03 12 84 KCI 13 75 CaC03 20 50 CaCI2 ' 2 H2O 14 73 Ca gluconate . 1 H2O 4 224 Ca lactate . 5 HP 6 154 MgS04 ' 7 H2O 8 123 NH4CI 19 54

B. Measurements

Ideal Body Mass (5)

< 5 ft (males and females): Height2 (cm~0~01.65

> 5 ft: Males: Kg = 39 + 2.27 (Height, in. - 60) Lb = 86 + 5 (Height, in. - 60) Females: Kg = 42.2 + 2.27 (Height, in. - 60) Lb = 93 + 5 (Height, in. - 60) Body Surface Area (m2), Approximation to Weight (kg) 1-5 kg 0.05 X Weight + 0.05 6-10 kg 0.04 X Weight + 0.10 11-20 kg 0.03 X Weight + 0.20 21-70 kg 0.02 X Weight + 0.40 10 kg 0.5 m2 30 kg 1.0 m2 Kidney Size in Normal Children (6)

Length (em) (5-13 yr) = 0.379 X Age (yr) + 6.65 ± 1.45 Sectional area (cm2) = 1.0126 X Height (in.) - 9.272 ± 10.24 or 7.23 X Kidney length (cm) - 29.37 ± 9.8 or 28.47 X Body surface (m2) + 12 ± 9.94 Appendix II: Formulas 435

Urinary Bladder Capacity (Values level off after age 9 yr) (7) (ml) = 32 X Age (yr) + 73 (oz) = 2 + Age (yr)

C. Clearance (C)

~v(k' . S C k = s;;- IS any substance; V: unne; : serum; V: volume)

CH20 = V (1-VIS Osm) GFR Full-term infants: (ml/min/1.73 m2) = 1.1 X Body length (cm) (8) Children: . K X Body length (cm) .. (ml/mm/1.73 m2) = Scr (mg/dl) (Cr: creatmme) (9) K in low birth weight infants < 1 yr = 0.33 (0.2-0.5) term infants <1 yr = 0.45 (0.3-0.7) children (2-12 yr) = 0.55 (0.4-0.7) females (13-21 yr) = 0.55 (0.4-0.7) males (13-21 yr) = 0.70 (0.5-0.9) 0.5 X Length (cm) Adolescent boys = 1.5 X Age (yr) + Scr (mg/dl) (10)

Ad 1 (18-92 ). M 1 (I .) = 140 - Age in years) X Weight (kg) (11) u ts yr. a es m /mm 72 X SCr (mg/dl) Females: 85% of males

D. Fluids and Electrolytes

Total body water 60% body weight Intracellular fluid 40% Extracellular fluid 20% Interstitial fluid volume 15% Plasma volume -50ml/kg Blood volume -75 ml/kg Potassium Total body potassium 55 mEq/kg Falls - 370 mEq for each 1 mEq/L fall in measured serum potassium Serum K concentration increases by 0.6 mEq/L for every 0.1 decrease in serum pH 436 Amin Y. Barakat

Chloride

Decrease in 1 mEqJL of serum chloride = decrease of 1% of total body chloride Correction of Electrolyte Abnormality

mEq needed = (Desired level - Actual level) X Distribution factor X Baseline weight in kg

Distribution factor: HC03 0.4-0.5 CI 0.2-0.3 Na 0.6-0.7 Correction of Serum Na

Hyperlipidemia: Reduction of Na (mEq/L) = plasma lipids (mg/dl) X 0.002 Hyperproteinemia: Reduction ofNa (mEq/L) = amount of protein >8 (g/dl) X 0.25 Hyperglycemia: Expected Na (mEq/L) = measured Na + 0.028 (glucose - 100) Hyperglycemia with insulin treatment: Expected Na (mEq/L) = meas• ured Na + 0.16 (glucose - 100)

Total CO2 Exhaled = 3.2 ml/kg/min; 7% increase °C of fever I pH = log- H+ (HCO) pH = 6.1 + log 0.03 pC02

H+ = 24 (P.C02) HCO) Metabolic Acidosis pC02 decreases 1-1.5 mm Hg for each mEq/L decrease in HCO)

pC02 = last 2 digits of pH pC02 = 1.5 HCO) + 8 HCO) + 15 = last 2 digits of pH Metabolic Alkalosis pC02 increases 0.5-1 mm Hg for each mEq/L increase in HCO)

pC02 = last 2 digits of pH Appendix II: Formulas 437

Respiratory Acidosis

HCO} increases 0.35 mEq/L for each mm Hg increase in pC02 Respiratory Alkalosis

HCO)" decreases 0.5 mEq/L for each mm Hg decrease in pC02 Prediction of Compensatory Response in Simple Acid-Base Disturbances (12)

Metabolic acidosis PaC02 = (1.5 X HCO)") + 8 ± 2

Metabolic alkalosis PaC02 = (0.9 X HCO;) + 9 ± 2

Respiratory alkalosis .elHCO- = .elPaC02 X 4 3 10

Respiratory acidosis .elHCO- = .elPaC02 X 25 3 10 . Osmolality

Estimated serum osmolality (mOsm/kg water) = 2 Na (mEq/L) + Glucose BUN (Mannitol Ethyl alcohol) ( 11 . dl) 18 + 2.8 + 18 + 4.6 a In mg/ (Normal - 290) Osmolar gap (mOsm/kg water) = Measured osmolality - Calculated osmolality (Normal < 10) E. Tubular

FEK = VJSK X ScriVer X 100 (FE: fractional excretion; K: HCO), P04, Na, etc.) Tubular reabsorption of phosphate (TRP%) = (1 - FEpo) X 100

Tmp04 = Ppo4 (threshold) X GFR (13) TP/GFR (13): Newborn 6.9 ± 1.2 I mo-12 yr: 4.4 ± 0.6 12-16 yr 4.0 ± 0.6 > 16 yr 3.2 ± 0.4

% Na (or water) delivery = G~R X 100

% distal Na reabsorption = C CH20 C X 100 H;O + Na 438 Amin Y. Barakat F. Renal Failure Indices

FENa (%) = V NJSNa X SCr/V Cr X 100 (14) Acute tubular necrosis: > 3 (adults) Prerenal and others: < 1 (adults); < 2 (neonates) (In small pre matures, may normally reach as high as 5%) V urea (mg/dl) Acute tubular necrosis : < 14 (15) S urea (mg/dl) Prerenal failure : > 14

R 1 f: '1 . d (RFI) - VNa (mEq/L) X PCr (mg/dl) (16,17) ena at ure m ex - VCr (mg/dl)

Acute tubular necrosis: Adults : > 1.98 Infants : > 3 Neonates: > 2 Prerenal < 1.5

G. Others

Creatinine, Serum (age 1-20 yr) (mg/dl) = Males : 0.35 + (0.025 X Age, yr) (18) Females: 0.37 + (0.018 X Age, yr) Creatinine, Urine

Children (mg/kg/24 hr) = 15 + (0.5 X Age, yr) ± 3 (19) Adults (mg/kg/24 hr) = 28 - (0.2 X Age, yr) (11)

Protein Selectivity Index (PSI) = (V IgG X P IgG / V albumin X S albumin) X 100 (20) < 10%: Selective > 20%: Nonselective

Calcium Corrected serum calcium in hypoalbuminemia: Serum calcium (mg/dl) - serum albumin (g/dl) + 4 or Each g/dl of albumin binds -- 0.8 mg/dl calcium or % calcium bound = 8 (albumin) + 2 (globulin) + 3 Uric Acid

Acute unc. aCI'd nep h ropathy suspecte d I'f spot unne. CVric ..acid > 1 reatmme Appendix II: Formulas 439 References 1. Behrman RE, Vaughn VC III (eds) (1987) Nelson Textbook of Pediatrics, 13th edition. WB Saunders, Philadelphia 2. Holliday MA, Barratt TM, Vernier RL (1987) Pediatric N~phrology, 2nd edi• tion. Williams and Wilkins, Baltimore 3. Rollings RC (1984) Facts and formulas. Rollings and Rollings, Nashville 4. Rowe PC (ed) (1987) The Harriet Lane Handbook, 11th edition. Year Book Medical Publishers, Chicago 5. DuBose TD (1983) Clinical approach to patients with acid-base disorders. Med Clin North Am 67: 799-813 6. Stark H, Eisenstein B, Tieder M (1983) TP/GFR as a measure of normal P04 handling in children. Europ J Pediatr 140: 181 (abstract) 7. Soothill JF (1962) The estimation of eight serum proteins by gel diffusion precipitation technique. J Lab Clin Med 59: 859-870 8. Traub SL, Johnson CE (1980) Comparison of methods of estimating creatinine clearance in children. Am J Hosp Pharm 37: 195-201 9. Hodson CJ, Drewf JA, Karn MN, et al (1962) Renal size in normal children. A radiographic study during life. Arch Dis Child 37: 616-622 10. Berger RM, Maizels M, Moran GC, et al (1983) Bladder capacity (ounces) equals age (years) plus 2 predicts normal bladder capacity and aids in diagnosis of abnormal voiding patterns. J Urol 129: 347-349 11. Schwartz GJ, Feld LG, Langford DJ (1984) A simple estimate of glomerular filtration rate in full-term infants during the first year of life. J Pediatr 104: 849-854 12. Espinel CH (1976) The FENa test. Use in the differential diagnosis of acute renal failure. JAMA 236: 579-581 13. Luke RG, Linton AL, Briggs JD, et al (1965) Mannitol therapy in acute renal failure. Lancet 1: 980-982 14. Mathew OP, Jones AS, James E, et al (1980) Neonatal renal failure: usefulness of diagnostic indices. Pediatrics 65: 57-60 15. Handa SP, Morrin PAF (1967) Diagnostic indices in acute renal failure. Canad Med Ass J 96: 78-82 16. Schwartz GJ, Haycock GB, Chir B, Spitzer A (1976) Plasma creatinine and urea concentration in children: Normal values for age and sex. J Pediatr 88: 828-830 17. Ghazali S, Barratt TM (1974) Urinary excretion of calcium and magnesium in children. Arch Dis Child 49: 97-101 18. Schwartz GJ, Ganthier B (1985) A simple estimate of glomerular filtration rate in adolescent boys. J Pediatr 106: 522-526 19. Schwartz GJ, Brion LP, Spitzer A (1987) The use of plasma creatinine con• centration for estimating GFR in infants, children and adolescents. Pediatr Clin North Am 34: 571-590 20. Cockcroft DW, Gault MH (1976) Prediction of creatinine clearance from serumn creatinine. Nephron 16: 31-41 Appendix III: Curves

AMIN Y. BARAKAT

WEIGHT SURFACE AREA IN KILOGRAMS NOMOGRAM SURFACE AREA IN METER 2 22 2·1 ~ 50 1-9 1-8 I·T 40 1-6 HEIGHT 1'5 IN CENTIMETERS 14 X)51 1·3 I Ii 1·2 180 H :: no 1'0 15.5 1&0 145 150 ()09 I0IO .. 135 .. I3D (}8 rr 125 Ill) • Ie 0-7 15 110 14 105 B MID 95 06 12 90 a5 80 (}S 10 75 10 &5 04 60 55 50 (}S 45 40 025 5 35

II 02

Surface Area Nomogram. Reproduced with permission from the Johns Hopkins Hospital: The Harriet Lane Handbook, 11 th edition, edited by Peter C. Rowe, M.D. Copyright © 1987 by Year Book Medical Publishers, Inc., Chicago. (Drawn from Ge• han and George, Cancer Chemotherapy Reports 54: 225, 1970.) 442 Amin Y. Barakat

Scr (mg/dl)

0.4

0.5 e1er (ml/min/1.73 sq. m) 0.6 0.7 Ht (em) 0.8 160 140 0.9 120 100 200 80 180 70 160 60 140 1.2 50 120 40 100 1.4 30 90 80 1.6 20 75 60 1.8 15 2 50 10 8 40 2.5 6 30 5 4 3 3 3.5 2 4 4.5 5 5.5 6

Nomogram used to estimate creatinine clearance in patients 1 to 18 years of age. A straight line connecting the child's serum creatinine value (Sc,) and height (Ht) will intersect the center line at a value approximating creatinine clearance (ClcJ Originally published in Traub SL, Johnson CE (1980) Comparison of methods of estimating creatinine clearance in children. Am J Hosp Pharm 37: 195-201. Copyright © 1980 American Society of Hospital Pharmacists, Inc. All rights reserved. Reprinted with permission. Appendix III: Curves 443

Nomogram to determine normal infant kidney length. The infant's weight and length determine two oblique lines on the left of the plot. The intersection should then be extended parallel to the horizontal rulings to its intersection with the heavy (mean) line on the right graph. The predicted kidney length is indicated on the abscissa. From Blane CE, Bookstein FL, DiPietro MA, Kelsch RC (1985) Sonographic standards for normal infant kidney length. AJR 145: 1289-1291, with permission, © by American Roentgen Ray Society. 444 Amin Y. Barakat

IS 15

1-' ,.... L- I' p '- ~ 10 .... 1,.. l-.....""" -- i.... t.,... .. ,... ItIIII 1-"'1"" I --Radiographic l-I- 5 - Ullrasonographic r-r-

o 5 10 15 AGE(Yeors)

Sonographic and radiographic renal length as function of age. From Rosenbaum DM, Korngold E, Teele RL (1983) Sonographic assessment of renal length in normal children. AJR 142: 467-469, with permission, © by American Roentgen Ray Society. Appendix III: Curves 445

GIRLS: BIRTH TO 36 MONTHS PHYSICAL GROWTH NCHS PERCENTILES'

42 t-B 3 6 9 12 15 18 21 24 27 30 33 36- 42 41 105 105 41 40-1- 40 3a. 100 I.QQ 39 38 37 95 ~ em in 36 90 35- 41 34 18 0 33 85 39 32 80 38 31 17 37 - 36 30- 75 16 35 29 - 34 28 70 • "15 33 27 32 26 ~5 14 31 25 30 24 60 29 23 J* 13 28 ~/ 27 22 55 12 26 21 -.? 25 , 11 20 50 24 19 23 18 45 16 22 17 21 16 40 9 20 15 19 8 18 in em 17 16 15 7 kg Ib 14 12 15 18..,--21 ,-24 27 ~ 3p==3r =: 3~

13 6 ... OTHERS ST,tTUF!E ______GESTATIONAL 12 FATHER S STATURE AGE wEEKS 11 5 OATE AGE LENGfH \'lEta... , MEAD C RC 10 fiRTH 9 4 8 7 3 6 5 4 2 Ib I kg B 3 ; ~ 9

Growth Charts. Adapted from Hamill PVV, Drizd T A, Johnson CL, Reed RB, Roche AF, Moore WM (1979) Physical growth: National Center for Health Sta• tistics percentiles. Am J Clin Nutr 32: 607-629. Copyright Ross Laboratories, 1982. Reproduced by permission of Pediatrics 41: 106, Copyright 1968. 446 Amin Y. Barakat

GIRLS: 2 TO 18 YEARS PHYSICAL GROWTH NCHS PERCENTILES' Appendix III: C urves 447

BOYS: BIRTH TO 36 MONTHS PHYSICAL GROWTH NCHS PERCENTILES'

,:; •• .!;--+ - • 42 B ' • 3 ' • 6 . 41 105 40- 39- 100 38 37 95 36 90 35 41 34 85 18 -40 33 . ~ 39 32 80 31 3"- 29 r?5 28 70 27 26 I- 65 25 24 I=- 60 23 I- 22 55 21 20 50 19 18 45 17 - 21 16 40 9 20 15 - 19 - 8 18 in em _ 17 r- 16 15 7 kg' Ib 14 12 " 1~3 ,2i- : 2~ _ ~7 ~O, ~3. ";6 6 13 VOTHEAS STArU~E ______GEsrA.TIO"'AL

12 FAl'HEA S STA.TU~E A.GE ,',EEKS 11 5 10 8"'" 9 4 8 7 3 6 5 4 ~ Ib Ikg B 3 ..1. - ~ 9 448 Amin Y. Barakat

BOYS: 2 TO 18 YEARS PHYSICAL GROWTH NCHS PERCENTILES·

v OT"'fR S S·,), TOJR£ "Ar.-£RSSTA,T'.. Rf 11 12 13 14 15 16 17 \8 77 OA TE AGE $TA1 ..... P£ CO,.... .-: EI\T . "" flO"" IE ttt..1 lS) 76 =F- i=r- '-t- -+ -1- 75 :- r.oc =i= r-f=: ITr-:--- ..F- 74 ~ .j - '- 7 18~ 73 --r- 0- r / 72 ~~ ,.,~ I- 180 71 -- /' -'r -r -- -= 70 I- i'l / I "' - 175 69 I - - "". ,.- 68 ~ ./ - II / / 170 67 r - ...- /j .. 66 - I ~ ~. / / / - 165 65 "~ ~ I V V/ r---=-- 64 2 4 5 6 - 7 8 9 10 - Ij 3 c-::. 1 / / 1 ~ 16(1 63 62 62 I---"- ~ f-+-- . ~ [7/ "j I V//{ - 61 155 ISS 61 60 £!!!.J!l. ~ 7 VI j Vj : r-= 59 150 / ~ r---:-- 58 VI Vj I- =:::: I~ I 57 145 V/ / - ~ 95.1-210 ,? I 56 ~ v: ~ 7 V/ / ~ =T 1--= 90.;200 55 14 /- 54 v/ 1--:'::" ---±- / 85 190 53 13 'i' / / C0 -=-= ----=- V 52 ;;v.: / / ~ r-= 180 51 1 ~ == - 7 / 80 f::::;:"" f=7-- 170 50 ~r/ h - ----7 / 49 125 75 - 160 - ~ --:= / 48 V/ - I 47 120 ~ ~ V 70 150 46 ''/: /; / .. 1 115 t& =-= t1 1/ 45 V ,,~65 140 44 .//~ ~ f7'/ I 43 ! /- 13O ~ l°r- 42 V / .. /i . c,-05 I--~ ~ I/o --r- - / .j 41 '- ...::::: 55~120 --r- r- ...:::.... , 4 ----- f- ~- / V- V / 1 '0 tb / 50"110 39 /- -f- 38 - / / V I/ ~ ~~ / v: - 45 -100 37 ~ LI+, , - 36 90 /1/1/ / VC 40 35 - "1- 34 ~ T 80 85 V- /' V 1/h 35 33 ,/ /- '-t 1-- 32 ~. V k:;:; 70 80 - V 30 31 / ~ f-- '~ t-- - .-'-,.-/ 60 :/ ~ t/ A 25 l§ --::; Y ~ 50 em V L ...-: ~ ~ ~ I: -: 40 .-::;: 40 1= ~ .~ 15""' ~~ 15 - 30 30 ~ - f;:::: Ib kg r-t- kg Ib 2 ~ 3 4 ~ 5 ~ 7 9 10 11 12 13 14 15 '6 17 \8 Appendix III: Curves 449

GIRLS: BIRTH TO 36 MONTHS PHYSICAL GROWTH NCHS PERCENTILES·

f--B h- 3 t- 6 4 9- f--r12 ~ 15 1-+18 21 24 27 30 33 t-- 36- '54 54 21 21 53 53 52 52 20- 51 51 20 50 50 49 ~ 49 19 f- .-c- .- 19 48 ~ ~ 7 -- ...... :...= 47 V r ..... 18 46 46 r:'/ ;...- ,.;;.- em in 7s y 44 ~ .L 17 43 21 46 42 / / 20- 44 42 16 41 19- 18 40 1~ 17 38 15- 38 16 36 34 37 15 32 36 14 14 30 35 13 28 ~ 12 26 13- 33 ./ 11- 24 32 I 16= 22 ~ v 9- 20 12 ./ , 8- 18 in em ./ 7- 16 14 --6 v 12 12 - 5- 10 10 4- 8 -! 8 -3 3- 6 6 4 2 2 4 Ib kg kg Ib em 50 55 60 65 70 75 80 85 90 95 100 in 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 3637 38 39 40 450 Amin Y. Barakat

BOYS: BIRTH TO 36 MONTHS PHYSICAL GROWTH NCHS PERCENTILES·

t-- B 3 - - 6 •. 9 • , 12 - 15 ~ 18 ~ 21 .--t 24 · •27 ~ . 30- +33--36- __

54 54 21 53 53 21 52 52 2(}- 51 ::;-=' - .= P=- 51 :::;;.--1-:. ::.. __ -: - 50 20 50 ::.-~ _ ;... __ ...-0:::: 49 49 19 48 19 I~ 47 47 r- 18 46 46 em in 45 44 v 17 43 2h-46 42 20 44 16 41 19- 42 I 18 40 ~-!IH!39 17 38 15- 38 16 36 34 '37 15' 32 14 36 14 30 35 13 28 34 12 26 13 33 11- 24 32 10- 22 31 9 20 12 8 18 in em bJ.::; 7 16 --6 6- 14 12 5 12 10 I ~ 5 10 4 8 : ~ 3- 6 4 2 2 4 Ib kg kg Ib em 50 55 60 65 70 75 80 85 90 95 1100 in 19 2021 22232425262728293031 323334353637383940 Appendix III: Curves 451

GIRLS: PREPUBESCENT PHYSICAL GROWTH NCHS PERCENTILES·

--"-,Of ' ,f "AT 1=1_ .'.~ ,H- cc ,,,.'>,,, IT 51 50 :1 10 49 '-' 48 ~ 105 47 46 45 ~OO

--j"+ t-----T '"43 95 42 41 90 -- 40 39 85 t----rL ---'-/ . - If 381: - 37 I 80 I I 36:: -f - 35- -f . 34-;::75 33-;:: t-- f - --j I----/-1 ._j . - ~70 j - If 311= 30 - --- -f 65 -j -- --/ - 30 65 29 -- -j- 29 28 f -V 28 60 27 / -1 if I 27 60 26 / / -I - -/-. - 26 . If- / V--/' 55 25 -- / 25 55 ~ - 24 ' -/- / -/1 /, 24 23 -/ - -/ :F 50 23 -'>0 22 L L- /; 22 /- / 7' 21 f---- r 21 45 45 20 -- / .T- 7- 20 /- - 19 i--- -v- --/" 19 / 7 40 18 -/ /' :/:: 18 40 '17 7 '-/- 17 / -- - / ,0 35 16 -/ 16 35 ~/ /~ ~:;/ 15 15 .~. 14 r "> - 14 30 /- 30 13 -r- 13 12 7"'::- 12 25 25 Ib kg kg Ib em 85 90 95 100 105 110 115 120 15 130 135 140 145 in 343536373839404142434445464748495051525354 55565758 452 Amin Y. Barakat

BOYS: PREPUBESCENT PHYSICAL GROWTH NCHS PERCENTILES'

O~"E ,s,Gf STAT,JRE .'ltF IGfoI1 cC .... •... ~"T 51 50 110 49 ""1- :~ 105 46 45 100 . -/ 44 43 95 42 I 41 90 40 ! 39-85 I - 38 0:: 37i: 36,...80 I 35- ! 34 ..... 75 33 32 70 31 30 30 65 65 29 29 28 28 ov: 27 27 60 26 26 55 25 25 55 24 24 50 23 23 =so 22 22 21 21 45 45 20 I 20 19 19 40 18 18 40 17 17 35 16 16 35 15 15 14 14 30 30 13 13 12 12 25 25 Ib kg kg Ib em 85 90 95 100 105 110 115 120 125 130 135 140 145 in 34353637383940 41 42 4344454647484950 5152535455 565758 Appendix III: Curves 453

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AMIN Y. BARAKAT

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Abruzzo-Erickson Cleft palate, coloboma, Horseshoe kidney, ?AD; ?XL syndrome hypospadias, deafness, hypospadias short stature, radial synostosis Achondrogenesis Micromelic dwarfism, Hydronephrosis, hydro- AR short trunk, fetal hydrops ureter, double collecting system Acrocephalopolydactylous Acrocephaly, hexadactyly Cystic renal dysplasia ?AR dysplasia, Elejalde of hands, gigantism, thick skin, visceromegaly, connective tissue hyperplasia Acrocephalosyndactyly Irregular craniosynstosis, Polycystic kidneys, AD Type I (A pert; ACS I) midfacial hypoplasia, syn- hydronephrosis dactyly, broad distal pha- lanx of thumb and big toe Acrocephalopolysyndac- Acrocephaly, peculiar fa- Hydronephrosis, AR tyly Type II (Carpenter, cies, brachysyndactyly of hydroureter ACPS II) hands, mental retardation Acrorenal syndrome Acral anomalies of hands Ectopic, aplastic, and hy- Sporadic and feet, uri nary tract poplastic kidneys; bladder abnormalities neck obstruction Adams-Oliver syndrome Growth deficiency, ab- Double collecting system sence defects of limbs, scalp and skull Adenine phosphoribosyl- Signs and symptoms as- Urolithiasis, renal failure AD transferase (APRT) sociated with renal stones deficiency Adrenal hyperplasia III Virilization, adrenal Unilateral renal agenesis, AR (21-0H-ase deficiency) insufficiency UP junction obstruction, double collecting system 456 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Adrenal insufficiency and Same Renal microangiopathy, Sporadic renal disease renal failure Aglossia-adactylia (Han- Aglossia, micrognathia, Unilateral renal agenesis Sporadic hart) syndrome hypoadactyly, cranial nerve palsy AIDS Abnormality in cellular Proteinuria, focal glomer- immunity, infections, Ka- ular sclerosis, diffuse posi sarcoma mesangial proliferation, minimal glomerular changes, acute and chronic renal failure, Type IV renal tubular acidosis, interstitial nephritis, nephrocalcinosis, membranoproliferative glomerulonephritis, Type I Alcohol embryopathy Prenatal and postnatal Unilateral renal agenesis growth retardation, mi- and hypoplasia, hydrone- crocephaly, short palpe- phrosis, duplication of bral fissues, joint urinary tract, other contractures, mental retardation Aldosteronism, primary Hyperaldosteronism, low Proteinuria, impairment Sporadic renin secretion, systemic of urinary concentrating hypertension ability, hypertension Aldrich (Wiskott-Aldrich) Congenital thrombocyto- Hematuria, proteinuria, XL penia, bloody diarrhea, nephrotic syndrome, eczema, recurrent infec- renal failure tions, elevated serum IgA Alkaptonuria Dark urine, pigmentation Nephrocalcinosis AR of sclerae, chronic arthropathy ex I-antitrypsin deficiency, Same Glomerulonephritis Sporadic emphysema, necrotizing angitisitis and glomerulonephritis Alstrom syndrome Retinitis pigmentosa, Proteinuria, renal failure AR nerve deafness, obesity, diabetes mellitus Amelogenesis imperfecta Amelogenesis imperfecta, Nephrocalcinosis, im- ?AR and nephrocalcinosis nephrocalcinosis, im- paired renal (enamel-renal; ERS) paired renal concentra- concentration tion and possible abnormality of calcium metabolism Appendix IV: Conditions and Syndromes 457

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Amyloidosis Macroglossia, peripheral Glomerular amyloid dep- polyneuropathy, osition, proteinuria, hy- hepatosplenomegaly pertension, nephrosis, positive renal biopsy in 87% of cases Angiokeratoma, diffuse Pain; skin lesions; cere- Abnormal lipid deposi- XL (Fabry disease, alpha- bral, ocular, cardiac and tion in epithelial and en- galactosidase A deficiency renal manifestations dothelial cells Aniridia, partial, unilat- Same Unilateral renal agenesis ?AR eral renal agenesis, psychomotor retardation

Antley-Bixler (trapezoido- Cranio- and humeroradial Ectopia, duplication of ?AR cephaly synostoses) synostosis, midface hypo- kidney and ureter, renal plasia, abnormal ears, hypertension narrow chest and pelvis, digital abnormalities

Anus, imperforate with Anal stenosis, dysgenetic Renal hypoplasia, aplasia, AD hand, foot and ear anom- ears; digital, renal and dysplasia; proteinuria; alies (Townes-Brocks) cardiac abnormalities VU reflux; posterior urethral valves; meatal stenosis Arteriohepatic dysplasia Unusual facies, vertebral Unilateral renal agenesis, AD (Alagille) and eye anomalies, proteinuria, tubular aci- chronic cholestasis, pe- dosis, renal insufficiency, ripheral pulmonary mesangiallipidosis with stenosis foam cells

Arthro-dento-osteodyspla- Acroosteolysis, general- Polycystic kidneys AD sia (Hajdu-Cheney) ized osteoporosis, joint laxity, small stature, persistent cranial sutures, early loss of teeth

Arthrogryposis multiplex Same Renal tubular cell degen- ?XLR congenita with renal and eration, nephrocalcinosis hepatic abnormality

Asphyxiating thoracic Hypoplastic thorax, respi- Proteinuria, hypertension, AR dystrophy of the newborn ratory difficulty, protrud- renal failure, Fanconi-like (Jeune) ing abdomen, syndrome, cystic dyspla- polydactyly, tapetoretinal sia, nephronophthisis, degeneration VU junction stenosis

Asplenia (lvemark) Congenital asplenia; car- Agenetic, hypoplastic, Sporadic diac, GI, GU and skeletal dysplastic, horseshoe, ?AR abnormalities ptotic and cystic kidneys; ureteral and urethral valves; hydronephrosis; double collecting system 458 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheri tance

Asymmetric crying facies Asymmetric crying facies, Unilateral agenetic, ec- ? cardiovascular and other topic, cystic and dysplas- anomalies tic kidney; fetal lobulation

Bacterial endocarditis Evidence of heart disease, 60-80% of patients are af- fever, renal involvement fected; hematuria (90%), proteinuria (35-88%), renal infacts (57%), focal or diffuse GN, renal failure

Barakat syndrome Familial nephrosis, nerve Proteinuria, steroid-resis- AR? deafness, tant nephrosis, renal XL? hypoparathyroidism failure

Bartter syndrome (hypo- Hypokalemic alkalosis, Hyperplasia of juxta glo- AR kalemic alkalosis) hyperaldosteronism, nor- merular apparatus mal BP, hyperplasia

Beeturia (Beta-cyaninuria) Asymptomatic except for Red urine ? red urine following oral ingestion of beets

Behcet syndrome Recurrent inflammatory Proteinuria, hematuria, ? lesions of mouth, geni- nephrotic syndrome, talia and eyes renal failure, glomerulonephritis, anyloidosis, rapidly progressive glomerulonephritis

Biliary atresia, Biliary atresia, renal and Renal aplasia or hypopla- ?AR extrahepatic cardiac malformations sia, nephrosis, polycystic kidneys, megaloureter, atresia of ureter

Biliary malformation Proximal renal tubular Proximal renal tubular ?XLR with renal tubular insufficiency, cholestatic disease, renal tubular aci- ?AR insufficiency jaundice, failure to thrive, dosis, proteinuria predisposition to infection, other congenital anomalies

Bird-headed dwarf Severe short stature, mi- Renal ectopy and hypo- AR (Seckel type dwarfism) crocephaly, narrow face, plasia, nephritis beak-like nose

Bloom syndrome Growth failure, facial te- Wilms' tumor AR langiectasia, defective immunity

Blue diaper syndrome Bluish discoloration of Azotemia, nephrocalci- ?AR, ?XL diapers, failure to thrive, nosis, interstitial nephritis hypercalcemia, infections Appendix IV: Conditions and Syndromes 459

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance

Blue rubber bleb nevus Rubbery, bluish to black Hypernephroma AD (BEAN) cutaneous nevi, nocturnal pain, regional hyperhydrosis Bowen-Hutterite syn- Microcephaly, prominent Horseshoe kidney, double AR drome (Bowen-Conradi) nose, micrognathia, joint collecting system deformities Brachio-oto-renal dyspla- Preauricular pits, cervical Ectopic, aplastic, hypo- AD sia (BOR) fistulae, hearing loss, plastic, dysplastic and po- renal abnormalities lycystic kidneys: chronic interstitial nephropathy with renal failure: glomerular segmental and focal hyalinization Brachymesomelia-renal Brachymesomelia of up- Glomerulocystic dysplasia ? syndrome per limbs, craniofacial dysmorphism, corneal opacities, renal anomalies C (Opitz trigonocephaly) Trigonocephaly, polysyn- Unilateral renal agenesis, AR syndrome dactyly, abnormal ears, hypospadias joint dislocations Camptobrachydactyly Brachydactyly of hands Urinary incontinence AD and feet, polydactyly, flexion contractures of fingers, septate vagina Campomelic dwarfism Congenital bowing of Hydronephrosis, hydro- AR (dysplasia) long bones, abnormal fa- ureter, hypoplastic and cies, dwarfism, other cystic kidneys defects

Cardi 0-vertebro-renal Severe obstructive left Calyceal and ureteral ec- ~AR syndrome heart abnormalities, ver- tasia, bifid pelvis, papil- teral and renal anomalies lary necrosis Carnitine deficiency, Lethargy, nonketotic hy- Renal tubular defect in AR myopathic poglycemia, hepatome- carnitine transport galy and cardiomegaly Caroli disease Segmental cystic dilation Medullary sponge, infan- Sporadic of intrahepatic bile ducts, tile polycystic kidneys cholelithiasis, hepatic fibrosis, congenital anomalies, failure to thrive Caudal regression, sirone- All degrees of severity, Agenetic, dysplastic, and Sporadic melia sequence from imperforate anus to horsehoe kidney: duplica- sironomelia tion of urinary tract Cerebral gigantism Acceleration of growth, Urethral stricture, Wilms' AD (Sotos) acromegalic appearance, tumor characteristic facies, variable mental retardation 460 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Cerebro-costo-mandibular Cerebral maldevelop- Renal ectopia, medullary ?AR; ?AD syndrome ment, micrognathia, se- cysts vere costovertebral abnormalities Cerebro-hepato-renal Hypotonia, abnormal Cortical cysts, protein- ?AR (Passarge) syndrome ears, hepatomegaly, renal uria, renal failure, cysts, failure to thrive hypospadias Cerebro-hepato-renal Failure to thrive, cere- Renal cysts and dysplasia AR (Zellweger) syndrome bral, renal and skeletal abnormalities; severe hypotonia, liver disease, distinctive facies, death in early infancy Cerebro-oculo-facio-skele- Microcephaly, ocular, fa- Horseshoe kidney, bilat- AR tal (COFS) syndrome cial and skeletal eral renal agenesis, dou- abnormalities ble collecting system Charcot-Marie-Tooth Slowly progressive weak- Hyalinization and hyper- AD (CMT) disease ness and muscle atrophy, cellularity of glomeruli; XL ocular abnormalities, focal segmental sclerosis cardiopathy with IgM and C3 deposits CHILD syndrome (ichth- Congenital hemidysplasia, Ipsilateral renal agenesis ?XL; ?AR yosiform erythroderma unilateral ichthyosiform and limb defects) erythroderma, ipsilateral limb defects Chloride diarrhea, Defective intestinal trans- Juxtaglomerular hyperpla- AR familial port of chloride; diarrhea, sia, nephrocalcinosis salt and water wasting Chondrodysplasia punc- Flat face, microcephaly, Micromulticystic kidneys AR tata, rhizomelic form cataract, short femur and humerus, stippled epiphysea Chromosome aberrations See p. 483 Central nervous system Microencephaly with dys- Hydronephrosis, AR dysgenesis, microcephaly, myelination, spastic cere- hydroureter mental retardation bral palsy, seizures, severe mental retardation, biliary duct hypoplasia Cockayne syndrome Cachectic dwarfism, pre- Nephrosclerosis, thick- AR cocious senile appear- ened glomerular base- ance, microcephaly, ment membrane, deafness, mental retarda- tubulointerstitial disease tion, skin hypersensitivity to sun Cohen syndrome Hypotonia, obesity, UP junction obstruction AR prominent incisors Appendix IV: Conditions and Syndromes 461

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance

Cold hypersensitivity Cold urticaria, pain and Renal failure, amyloid AD (familial cold urticaria) swelling of joints, fever nephropathy Coloboma of macula with Pigmented macular colo- Unilateral renal agenesis ?AD Type B brachydactyly boma, Type B brachydactyly Complement component Lupus-like illness Glomerulonephritis ? Clq deficiency Complement component Life-threatening infec- Proteinuria, hematuria, AD C3 deficiency tions, lupus-like picture membranoproliferative with fever, arthralgias glomerulonephritis and cutaneous vasculitis Connective tissue disease, Arthritis, sclerobactyly, Proteinuria, membranous mixed Raynaud's phenomenon, and proliferative glomer- lymphadenopathy, ulonephritis, renal failure anemia Coloboma, cardiac defect, Same Unilateral renal agenesis, ? other anomalies ectopia, double collecting system, posterior urethral valves, UP junction obstruction, hypospadias Coloboma, cataracts, iris Same Protein uria, generalized ?AR anomalies, myopia, hy- aminoaciduria, VU re- pertelorism, deafness, flux, hydroureter umbilical hernia, mental retardation Cornelia de Lange Pre- and postnatal growth Renal cystic dysplasia Sporadic syndrome deficiency, dysmorphic and hypoplasia, hydrone- facies, hirsutism, mental phrosis, hypospadias retardation Cranio-carpo-tarsal dys- Mask-like "Whistling" Renal hypoplasia with AD trophy (Freeman- face, ulnar deviation of contralateral Sheldon) hands, talipes hydronephrosis equinovarus Craniosynostosis with ra- Craniosynostosis, radial Crossed renal ectopia AR dial defects (Baller- hypoplasia or aplasia, Gerold) other skeletal abnormalities Crome syndrome Brain malformations, epi- Sclerotic glomeruli, ne- AR lepsy, cataracts, renal erotic tubules damage Cryoglobulinemia, fami- Vasculitis of skin with re- 50% of cases affected; hy- AD lial mixed (Meltzer current purpura, arthral- pertension, proteinuria, syndrome) gias, hepatic disease, nephrosis, renal tubular infection acidosis, papillary necrosis, glomerulonephritis 462 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance

Cryptophthalmos with Unilateral or bilateral ab- 25% of cases have renal AR other malformations sence of palpebral fissures and ureteral aplasia, hy- (Fraser) with other abnormalities pospadias or urethral meatal stenosis Cystathioninuria Variable mental retarda- Urolithiasis AR tion, thrombocytopenia Cystic fibrosis Failure to thrive, respira- Microscopic nephrocalci- AR tory and gastrointestinal nosis, hypercalciuria involvement, lethal Cushing's disease Obesity, osteoporosis, Urolithiasis, renal Sporadic growth retardation, dysplasia hypertension Cytochrome C oxidase Myopathy, lactic acidosis, Fanconi-like syndrome AR deficiency failure to thrive, weakness, death from respiratory failure in early infancy Dalmatian (renal) Hypouricemia, uric acid Increased renal clearance AR hypo uricemia urolithiasis of uric acid Denys-Drash (Drash) Pseudohermaphroditism, Wilms' tumor, nephrotic Sporadic syndrome nephropathy, and Wilms' syndrome, glomerulone- tumor in various phritis, diffuse mesangial combinations sclerosis Deafness, progressive; Same Proteinuria, renal failure AD? cataracts, myopia, mar- fanoid habitus, renal disease Dermatomyositis Myositis with muscle Proteinuria, arteriolar fi- weakness, cutaneous le- brosis, vasculitis, ne- sions, edema, low-grade phrotic syndrome, fever various glomerular lesions, renal insufficiency Dermatomyositis Myositis with muscle Proteinuria, arteriolar fi- weakness, cutaneous le- brosis, vasculitis, ne- sions, edema, low-grade phrotic syndrome, fever various glomerular lesions, renal insufficiency Diabetes mellitus Hyperglycemia, polyuria, Proteinuria, hypertension, Multi- polydipsia, diabetic clinical diabetic nephro- factorial ketoacidosis pathy develops 10-20 AD, AR? years after diagnosis; 7% of cases are affected Diabetic embryopathy Infants of diabetic moth- Hydronephrosis, renal ers, skeletal, cardiac, G I agenesis, double ureter and other malformations Appendix IV: Conditions and Syndromes 463

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Diaphragmatic hernia, Congenital diaphragmatic Aplastic, polycystic, Multi- familial, congenital hernia, respiratory dis- horseshoe, double and ec- factorial tress at birth topic kidney; hydronephrosis, hydroureter Diethylstilbesterol, expo- Abnormalities and neo- Urethral stenosis, sure in utero plasm of genital tract hypospadias DiGeorge syndrome Absence of thymus and Hydronephrosis, Sporadic parathyroid glands, im- malrotation munodeficiency, congenital heart defect, characteristic facies Disaccharide (sucrose) Diarrhea Urolithiasis AR intolerance Diverticula, multiple ca- Same Calyceal diverticula, at- AD lyceal, sensorineural tenuation of the pelvica- deafness lyceal system Dubowitz syndrome Short stature, microce- Hypospadias AR phaly, peculiar facies, eczema Dysautonomia, familial Reduced or absent tear Glomerulosclerosis secon- AR (Riley-Day) production, postural hy- dary to renal vascular potension, excessive per- denervation spiration, relative indifference to pain, emo- tional lability Dyschondrosteosis Mesomelic dwarfism with Nephritis AD? hereditary nephritis Dyssegmental dwarfism Short trunk and limbs, Hydronephrosis, AR~ narrow chest, vertebral hydroureter defects, reduced joint mo- bility, death in neonatal period Ectrodactyly-ectodermal Ectrodactyly, ectodermal Unilateral renal agenesis, AD dysplasia-clefting (EEC, dysplasia, cleft lip/palate hypospadias Rapp-Hodgkin) Ehlers-Danlos syndrome Hyperelasticity and fragil- UP junction abnormality, AD ity of skin and blood ves- dissected or hypoplastic AR sels, hypermobility of renal artery, polycystic or XL joints medullary sponge kidney, Sporadic renal tubular acidosis, bladder neck obstruction Elliptocytosis Mild anemia, if any Renal tubular acidosis AD Ellis-van Creveld syn- Acromelic dwarfism, Nephrocalcinosis, glome- AR drome (Chondroectoder- polydactyly, hypoplasia rulosclerosis, unilateral mal dysplasia) and dystrophy of nails renal agenesis, mega ureter and teeth, cardiac malformation 464 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheri tance Epidermal nevus Midfacial nevus, seizures, Renal hamartoma, ne- Sporadic mental deficiency phroblastoma, renal artery stenosis

Epidermolysis bullosa Subepidermal blisters, ul- Hydronephrosis, hydro- AD dystrophica ceration of mucosae, flex- ureter, renal amyloidosis ion contractures of fingers, osteoporosis Exomphalos-macroglos- Omphalocele, macroglos- Renal medullary dyspla- AD sia-gigantism (EMG, sia, nephromegaly, in- sia, Wilms' tumor, hydro- Beckwith-Wiedemann) creased birth weight, nephrosis, hydroureter, facial flame nevus, char- ectopic and double kid- acteristic ear helix anom- ney, renocortical cysts aly, hypoglycema Facio-cardio-renal Characteristic facies, se- Horseshoe kidney, AR? syndrome vere mental retardation, hydroureter cardiac defects, horseshoe kidney

Facio-oculo-acoustico- Ocular and craniofacial Proetinuria, aminoacidu- AR? renal (FOAR) syndrome anomalies, deafness ria, VU reflux

Familial Bleeding tendency Hydronephrosis AD thrombocytopenia

Fanconi-Bickel syndrome Defect in renal tubular Glycosuria, caiciuria, pro- AR transport and glycoge- teinuria, organic aciduria, nosis; failure to thrive, glycogen accumulation in hepatomegaly proximal tubular cells Fanconi pancytopenia Pancytopenia, hyperpig- 33% of patients affected; AR mentation, skeletal de- aplastic, ectopic, and hor- formities, absent or sehoe kidney, duplication hypoplastic thumb of urinary tract, hydronephrosis, renal cysts Fatty metamorphosis of Hypoglycemia, hypo- Vacuolization of renal AR the viscera (visceral tonia, death in neonatal proximal tubular steatosis) period epithelium

Femoral-facial syndrome Femoral hypoplasia, unu- Hemangioma of urinary Sporadic sual facies, cleft palate tract

FG syndrome Congenital hypotonia, Dilation of urinary tract, XL macrocephaly, mental re- urolithiasis tardation, imperforate anus, partial agenesis of corpus callosum Focal dermal hypoplasia Atrophy and linear pig- Horseshoe kidney XLD (Goltz) mentation of skin, dysplastic nails, anomalies of hands and vertebrae Appendix IV: Conditions and Syndromes 465

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance

Frontometaphyseal Prominent supraorbital Double collecting system, XL dysplasia ridges, metaphyseal dys- UV obstruction, plasia, joint limitations, pyelonephritis conductive deafness

Frontonasal dysplasia Median cleft face, ocular Unilateral renal agenesis ?sporadic hypertelorism ?AR

Fryns syndrome Characteristic facies, cor- Cystic dysplasia, duplica- AR neal opacities, cleft Iip/ tion of urinary tract palate, pulmonary hypoplasia, distal digital hypoplasia, urogenital abnormalities

Fructose intolerance, Hypoglycemia, liver Renal tubular acidosis, AR hereditary cirrhosis proteinuria, aminoaciduria

Fundus flavimaculatus, Same Polycystic kidneys ? cystic kidneys

Galactosemia Cataracts, hepatospleno- Proteinuria, AR megaly, failure to thrive, aminoaciduria variable mental retardation

Galloway syndrome Microcephaly, hiatus her- Nephrosis, microcystic AR nia, nephrosis dysplasia, focal glomerulosclerosis, focal basement membrane thickening,

Gangliosidoses Severe cerebral degenera- cytoplasmic ballooning AR tion, skeletal deformities, and accumulation of gan- accumulation of ganglio- glioside in renal glomeru- side in different organs lar epitheliam cells

Gaucher's disease (~-glu- Hepatosplenomegaly, Gaucher cells in glomer- AR cosidase deficiency) Gaucher cells in bone uli and interstitium marrow

Glycinuria Renal colic Oxalate urolithiasis ?AD

Glycogen storage disease Short stature, hepatome- Enlarged kidneys, Fan- AR I (Von Gierke) galy, hypoglycemia, coni-like syndrome, vacu- hyperuricemia olated renal tubular cells

Glycogen storage disease Crampy muscle pain on Acute renal failure AR (McArdle) exertion, myoglobinuria

Goldston syndrome Dandy-Walker malforma- Cystic renal dysplasia AR tion, celebellar malformations, dysplastic kidneys 466 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Gout Hyperuricemia, arthritis, Uric acid urolithiasis, ne- ? tophi phropath,y with acute renal failure, chronic urate nephropathy with nephrosclerosis and hypertension Granulomatous disease, Neutrophil dysfunction, Cystitis XL chronic recurrent bacterial infections Hall-Pallister syndrome Hypothalamic hamartob- Agenesis, dysplasia, Sporadic lastoma, hypopituitarism, horseshoe and cross ecto- imperforate anus, pia of kidney polydactyly Heart, congenital Cardiac murmur and Renal agenesis, dysgene- ? malformations other findings depending sis, ectopia and hypopla- on nature of sia; 25% of ventricular malformation septal defect have renal abnormalities, particu- larly hypoplasia Heart disease, congenital, Cyanosis and hypoxia Glomerular enlargement, ? cyanotic secondary to cardiac proteinuria, decreased malformation renal plasma flow, proximal renal tubular acidosis, glomerular sclerosis, others Heart failure, congestive Tachypnea, tachycardia, Proteinuria (85%), hema- hepatomegaly, edema, turia, pyuria, infarcts, ar- poor perfusion teriolar sclerosis, inability to concentrate urine (27- 77%), prerenal azotemia, glomerulonephritis Hemihypertrophy Total or partial asymme- Wilms' tumor, enlarged ?AR try, hemihyperesthesia, kidneys, nephrocalcinosis hemiareflexia, scoliosis medullary sponge kidneys, hypospadias Hemolytic-uremic syn- Coombs' negative hemo- Renal microangiopathy, ? drome (HUS) lytic anemia, thrombocy- acute renal failure topenia, acute renal failure Hemophilia A and B Factor VIII or Factor IX Filling defects, calculi, XL deficiency, bleeding papillary necrosis, episodes hydronephrosis Henoch-Schonlein Purpuric skin rash, ar- Hematuria, proteinuria; purpura thralgia, abdominal pain, nephritis of variable se- nephritis verity and histology in 20-30% of cases Appendix IV: Conditions and Syndromes 467

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Hepatic fibrosis, Hepatic fibrosis, congeni- Cystic, dysplastic kidneys ?AR congenital tal heart disease Hepatic fibrosis, polycys- Same, other dysmorphic Polycystic kidneys '!AR tic kidney, coloboma, features encephalopathy Hepatitis, viral Jaundice, abnormal liver Proteinuria, hematuria, functions, positive hepati- cylindruria, decreased tis antigens GFR, immune complex glomerular disease with HB,Ag Hypermethioninemia Hepatic cirrhosis, pan- Enlarged kidneys, AR creatic cell hyperplasia aminoaciduria Hyperoxaluria Renal colic Hematuria, nephrocalci- AR nosis, oxalate urolithiasis

Hyperparathyroidism, Hypercalcemia and re- Nephrocalcinosis, uroli- AD familial primary lated symptoms, osteitis thiasis, salt wastage, med- fibrosa ullary sponge kidney Hyperparathyroidism, Respiratory distress, hy- Nephrocalcinosis ?AR neonatal potonia, seizures, polyuria, failure to thrive Hyperprolinemia, Type I Elevated plasma levels of Familial nephropathy, he- AR (proline oxidase L-proline, nephropathy, maturia, renal hypoplasia, deficiency) photogenic epilepsy pyelonephritis Hypertelorism, microtia Hypertelorism, microtia, Ectopic kidneys AR facial clefting (HMC) clefting, psychomotor retardation, atretic auditory canals Hypertelorism with Ocular hypertelorism, Unilateral duplication of ?XLD esophageal abnormality dysphagia, hoarse cry, renal pelvis and ureters, and hypospadias (G; Op- hypospadias YU reflux, hypospadias itz-Frias) Hypertension, essentIal Asymptomatic elevation Protein uria, ? in blood pressure, ather- nephrosclerosis osclerotic damage to other organs Hypertension with Same, abnormal steroido- Focal nephritis, malig- ?AR adrenal, genital and renal genesis, hyporeninemia nant nephrosclerosis, defects; deafness renal failure Hyperuricemia, ataxia, Same Hereditary nephropathy, ?XLD deafness renal failure H ypoaldosteronism Hypoaldosteronism, hy- Distal tubular acidosis, Sporadic poreninemia, renal insufficiency hyperkalemia 468 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheri tance Hypophosphatasia, Low alkaline phospha- Nephrocalcinosis AR infantile tase, hypercalcemia, rickets Hypospadias; mental Also microcephaly, crani- Hypospadias ?AR retardation ofacial dysmorphysm, ?XLR joint laxity, beaked nails Hypouricemia, hypercal- Hypouricemia, hypercal- Defect in renal tubular ?AR ciuria and decreased bone ciuria, decreased bone reabsorption of uric acid density density, decreased renal clearance of uric acid Ichthyosis, familial, dwarf- Same, hypogonadism, Chronic pyelonephritis, ?AR ism, mental retardation, spasticity glomerulosclerosis, dou- renal disease ble kidney and ureter, vacuolization of proximal tubular cells, renal insufficiency Ichthyosis, split hairs and Same Aminoaciduria ?AR aminoaciduria syndrome Intestinal pseudoobstruc- Intermittent episodes of Hydronephrosis, YU re- AD tion, familial abdominal pain or disten- flux, megacystis sion, megaduodenum, smooth muscle degeneration Intrahepatic cholestasis, Same Tubulointerstitial ?AR renal disease nephropathy Radial ray defects, hear- Radial ray hypoplasia, Renal ectopia AD ing impairment, internal hearing impairment, in- ophthalmoplegia, throm- ternal ophthalmoplegia, bocytopenia (IYIC thrombocytopenia syndrome) J ohanson-Blizzard Hypoplastic alae nasi, hy- Hydronephrosis AR syndrome pothyroidism, congenital deafness, pancreatic achylia Kallmann syndrome Anosmia, color blindness, Unilateral renal agenesis AD hypogonadism Kartagener syndrome Dextrocardia, bronchiec- Mesangiocapillary AR tasis, sinusitis, immotile glomerulonephritis cilia syndrome Kaufman oculo-cerebro- Growth and mental retar- Caleictasis, ureterectasia, AR facial syndrome dation, microcephaly, hy- bifurcation of renal pelvis potonia, hypertelorism, other eye abnormalities Kaufman-McKusick Hydrometrocolpos, poly- Polycystic kidneys, hy- AR syndrome dactyly, congenital heart dronephrosis, bladder malformation neck obstruction Appendix IV: Conditions and Syndromes 469

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Kawasaki disease (muco- Fever, desquamation of Urethritis, renal artery in- cutaneous lymph node) skin, rash, lymphoadeno- volvement in 50% of pathy, arthritis, urethritis cases Keratoconus, cleft lip!pal- Same Double ureters, splitting ?AR ate, genitourinary abnor- of renal pelvis mali ties, short stature, mental retardation Klippel-Feil deformity, Short stature, absent va- Renal agenesis and ? conductive deafness and gina, conductive deafness, ectopia absent vagina Klippel-Feil deformity of cervical spine Klippel-Trenaunay-Weber Asymmetric limb hyper- Diffuse bilateral nephrob- Sporadic syndrome trophy, hemangiomas lastoma, hemangioma of urinary tract Lacrimo-auriculo-dento- Nasolacrimal duct ob- Unilateral renal agenesis AD digital syndrome struction, cup-shaped pin- nas, enamel dysplasia, digital malformations Larsen syndrome Flat facies, multiple joint Hydronephrosis, unilat- AD dislocations eral agenesis AR Laurence-Moon Retinitis pigmentosa, Pyelonephritis; glomeru- AR syndrome mental retardation, obes- lonephritis; cystic, dys- ity. short stature, hypoplastic, hypoplastic and gonadism, polydactyly hydronephrotic kidneys; YU reflux; nephrosclerosis Lecithin: cholesterol acyl- Diffuse corneal opacities. Proteinuria, hematuria, AR transferase (LCA T) anemia, proteinuria, renal renal failure, hyperten- deficiency insufficiency sion, glomerular foam cells, deposits in intima of renal arterioles Leprechaunism Failure to thrive, peculiar Tubular ectasia, medul- AR facies, emaciation, hirsu- lary calcification tism, endocrine disorders Leprosy Chronic infection affect- Interstitial nephritis, ing skin, neural tissue chronic pyelonephritis, and mucous membranes, renal amyloidosis, prolif- typical acid-fast mycobac- erative glomerulonephri- teria in scrapings tis, glomerulosclerosis, uremIa Leptospirosis Headache, fever, chills, Occur in 80% of patients; myalgias. jaundice, rash proteinuria and pyuria (65%), hematuria and cylindruria (5-10%). tubulointerstitial nephritis, acute renal failure 470 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Lesch-Nyhan syndrome Self-mutilation, extrapyr- Uric acid urolithiasis and XLR amidal signs, delayed mo- nephropathy, shrunken tor development, kidneys excessive uric acid production Leukonychia totalis White nails, sebaceous Renal calculi AD cysts, renal calculi Limb deficiency, distal Distal limb deficiency, Oligomeganephronia Sporadic and oral defects oral defects, micrognathia Lipodystrophy, acquired Progressive, generalized Nephromegaly, glomeru- Sporadic total (Lawrence) loss of adipose tissue, lar sclerosis, renal liver cirrhosis, hyperlipe- insufficiency mia, insulin-resistant nonketotic diabetes Lipodystrophy, concenital Generalized loss of fat, Nephromegaly, hydrone- AR total (Seip) hypertrichosis, increased phrosis, hydroureter, pigmentation, hepatosple- urolithiasis, nephrosis, nomegaly, acceleration of renal insufficiency somatic growth, enlarged genitalia, insulin-resistant nonketotic diabetes Lipodystrophy partial Loss of adipose tissue Mesangiocapillary Sporadic (Barraquer-Simmonds) from face and upper glomerulonephritis body, hypertriglyceridemia, hypocomplementemia Lissencephaly (Miller- Microcephaly, incomplete Unilateral renal agenesis, AR Dieker) brain development, verti- cystic renal dysplasia cal ridge in forehead, mental deficiency Liver cirrhosis, congenital Same Fanconi-like syndrome ? and renal tubular defects Liver disease, subepider- Small liver with hepato- Proteinuria, membrano- ?AR mal immunoprotein, and cellular damage, hyper- proliferative membranoproliferative splenism, glomerulonephritis glomerulonephritis papulosquamous dermatitis, IgC in skin Lowe oculo-cerebro-renal Growth and mental retar- Aminoaciduria, protein- XL syndrome dation, hypotonia, meta- uria, hematuria, pyuria, bolic acidosis, generalized decreased tubular absorp- aminoaciduria, protein- tion of phosphate, renal uria, rickets, eye changes failure Lupus erythematosis, sys- Collagen disease with Proteinuria, abnormal ? temic (SLE) multisystem involvement, urine sediment, lupus ne- arthritis, fever, malar phritis, nephrotic syn- rash, autoantibody drome, hypertension, abnormality renal failure Appendix IV: Conditions and Syndromes 471

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance

Lymphangiectasia, Protein-losing Nephrotic syndrome AD intestinal enteropathy Lymphedema, Congenital lymphdema, Proteinuria, hypoplastic ?AR hypoparathyroidism hypoparathyroidism, ne- kidneys, renal failure ?XLR phropathy, mitral valve prolapse, brachytelephalangy

Lymphogenic hypergam- Same Glomerulonephritis AR maglobulinemia, antibody deficiency, autoimmune hemolytic anemia, glomerulonephritis

Lymphopenic immune Lymphopenia, T-cell defi- Glycosuria, focal glomer- XL defect ciency, recurrent infec- ular sclerosis tions, photophobia, short stature

Macrothrombocytopathia, Same Nephritis similar to acute AD nephritis, deafness or hereditary glomerulonephritis, hypertension, progressive renal failure

Magnesium, defect of Hypomagnesemia with Nephrocalcinosis, renal AR renal tubular transport of secondary hypocalcemia, interstitial fibrosis convulsions, tetany

Malaria Paroxysmal fevers, ane- Nephrotic syndrome, mia, splenomegaly membranous and rarely proliferative, immune complex glomerulonephritis

Malignancy, disease Depends on the type and Acute renal failure secon- ? site of disease dary to renal parenchymal involvement, obstruction or urate nephropathy, immune complex glomerulopathy

Malignancy, therapy Tumor lysis syndrome Increased serum urate and creatinine, drug nephrotoxicity

Mammorenal syndrome Lateral displacement of Bilateral renal hypoplasia Sporadic nipples, bilateral renal or duplication hypoplasia or duplication

Marden-Walker Blepharophimosis, micro- Microcystic renal disease, AR syndrome ph thaI mia, cleft palate, dilated collecting system congenital joint contractures, failure to thrive 472 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Marfan syndrome Musculoskeletal abnor- Hydronephrosis and AD mali ties, hypotonia, ex- hydroureter; polycystic, cessive length of limbs, extopjc and medullary cardiovascular abnormali- sponge kidney; unilateral ties, ectopia lentis and renal agenesis; nephroli- other eye changes thiasis, ureteral stenosis, duplication of urinary tract

Marshall-Smith syndrome Failure to thrive, acceler- Hydronephrosis, ? ated skeletal maturation, hydroureter craniofacial dysmorphism, psychomotor retardation

Meckel-Gruber syndrome Occipital encephalocele, Dysplastic, polycystic, hy- AR microcephaly, abnormal poplastic, horseshoe, hy- facies, cleft lip/palate, dronephrotic and polydactyly medullary sponge kidney; dilated ureters; renal vascular abnormalities

Mediterranean fever, Fever, pleuritis, peritoni- Anyloid nephropathy AR familial (FMF) tis, arthritis

Megacolon, aganglionic Congenital megacolon Obstructive uropathy Multi- (Hirsch sprung) factorial Megaduodenum and/or Megacystis, dilated small Megacystis, hydrone- AD megacystis bowel, malrotation, intes- phrosis, hydroureter tinal hypoperistalsis

Metachromatic leukodys- Weakness, hypotonia, Metachromatic granules AR trophy (sulfatide macular changes, mental in tubular cells, sulfatide lipidosis) deterioration in lysosomes

Metatropic dwarfism Short-limbed dwarfism, Bilateral hydroureter AR (dysplasia) narrow thorax with short ribs, progressive kyphoscoliosis

Microphthalmia with as- Micro- or anophthalmia, Renal failure, dysgenesis XL socia ted anomalies (Lenz renal dysgenesis, cryptor- or aplasia; hydroureter, dysplasia) chidism, abnormality of hypospadias limbs, clavicles and teeth

Miranda syndrome Brain malformations, Cystic renal dysplasia AR renal and liver dysplasia

Mitochondrial cytopathy, Ataxia, seizures, retinitis Glomerulosclerosis, tubu- AR with ragged red fibers pigmentosa, ophthalmo- lar atrophy, renal failure, plegia, failure to thrive, Fanconi syndrome abnormal mitochondria on muscle biopsy Appendix IV: Conditions and Syndromes 473

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Mucopolysaccharidosis Coarse facies, stiff joints, Metachromatic granules AR Type I (MPS I, Hurler mental deficiency, cloudy in glomerular epithelium syndrome; a-L iduroni- cornea dase deficiency) Mulibrey nanism Progressive growth fail- Wilms' tumor AR ure, hydrocephaloid head, ocular abnormalities, hypotonia, hepatomegaly MURCS association Short stature, Miillerian Renal agenesis and/or Sporadic duct aplasia, renal anom- ectopia alies, cervical defects Myotonic dystrophy Myotonia, muscle wast- Polycystic kidneys AD ing, cataract, hypogonadism N syndrome Mental retardation, visual Hypospadias AR? impairment, deafness, spasticity Nail patella syndrome Dystrophic nails, hypo- Nephropathy in 30-55% AD (hereditary osteo-onycho- plastic/absent patella, of patients, proteinuria, dysplasia) dysplastic elbows, iliac renal insufficiency horns Nephropathy, familial, Tapetoretinal degenera- Nephronophthisis AR retinitis pigmentosa, cere- tion, ataxia, peripheral bellar ataxia, skeletal dysostosis" renal abnormali ties anomalies Nephrosis with deafness; Same, bifid uvula Nephrosis, ureteral con- ?AR, urinary tract and digital striction, double collect- ?XLD malformations ing system, UV and bladder neck obstruction

Nephrosis, familial; hy- Same, peculira facies, ab- Steroid-resistant ne- ~AR; ?XL drocephalus, thin skin, normal T-cell function phrosis, glomeruloscle- blue sclerae rosis, hypertension, renal failure Nephrosis with deafness, Same Glomerulonephritis, ?AR urinary tract and digital hypertension ?XLD malformations Netherton disease Congenital ichthyosis, Selective or generalized AR "bamboo" hair, short aminoaciduria stature, variable mental retardation Neu-Laxova syndrome Intrauterine growth retar- Unilateral renal agenesis AR dation, microcephaly, abnormal facies Neuraminidase deficiency Cherry red macular spots, Nephritis, nephrotic AR (sialidosis) Type II loss of vision and intelli- syndrome gence, progressive myoclonus 474 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Neurofibromatosis (von Care-au-lait spots, cuta- Neurofibromatosis of uri- AD Recklinghausen's disease) neous neurofibromas, nary tract, renal vascular CNS tumors changes, renal artery involvement with hypertension

Nevus sebaceous of Ja- Linear sebaceous nevus, Renal hamartomas, ? dassohn (linear sebaceous epilepsy, mental nephroblastoma nevus) retardation

Niemann-Pick disease, Hepatosplenomegaly, re- Rare vacuolated glomeru- AR Type A (sphingomyeli- tarded mental and physi- lar cell, swollen glomeru- nase deficiency) cal growth, severe lar epithelial cells neurological disturbances

Nipples, supernumerary Accessory nipples and Double collecting system, AD sometimes breast tissue hypoplastic, microcystic and polycystic kidneys; hydronephrosis" UP junction stenosis, ureteral prolapse, Wilms' tumor

Noduli cutanei, multiple Same Hydronephrosis, double ?AD with urinary tract collecting system abnormalities

Noonan syndrome Short stature, webbed Polycystic, malrotated AD neck, pulmonary stenosis, and hydronephrotic kid- mental retardation neys; double collecting system

Ochoa (urofacial) Hydronephrosis, peculiar Hydronephrosis, hydro- AR? syndrome facial expression ureter, posterior urethral valves, VU reflux, neuro- pathic bladder

Oculo-auriculo-vertebral Unilateral deformity of Unilateral agenesis and ?AD syndrome (OA V or external ears, eye and crossed ectopia of kidney, Goldenhar) vertebral anomalies ureteral duplication, renal artery abnormality, unilateral cystic kidney

Oculo-cerebro-renal (De- Hydrophthalmos with Renal tubular acidosis, ?AR nys) syndrome secondary glaucoma, hypercalciuria, mental retardation, short hyperphosphaturia stature, renal tubular dysfunction

Oculo-cerebro-renal Corneal opacities, nystag- Tubular dysfunction with ?XL (McCance) syndrome mus, brain abnormalities, acidosis, small glomeruli, mental retardation, fail- chronic renal failure ure to thrive, absence of testes, renal anomalies Appendix IV: Conditions and Syndromes 475

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Oculo-reno-cerebellar Tapetoretinal degenera- Glomerular sclerosis. AR syndrome tion, choreoathetosis of renal failure upper limbs, spastic di- plegia, mental retardation, glomerulopathy Oro-cranio-digital syn- Cleft lip/palate, abnormal Horseshoe kidney ?AR drome (Jeberg-Hayward) thumbs, microcephaly Oral-facial-digital syn· Malformation of oral cav- Polycystic kidney disease XL drome (OFD I) ity, face and digits; anomalies of anterior teeth, mental retardation Osteogenesis imperfecta Short, broad long bones, Aminoaciduria, cystinuria AD;AR multiple fractures, blue sclerae Osteodysplasty of Mel- Bowing of long bones, Hydronephrosis, hydro- ?AD; ?XL nick and Needles short upper limbs, rib- ureter, ureteral stenosis, bon-like ribs, typical fa- dysplastic kidneys cies, sclerosis of base of skull Osteolysis, hereditary, of Progressive osteolysis of Chronic glomerulonephri- AD carpal bones with carpal and tarsal bones, tis, hypertension, renal nephropathy nephropathy failure Osteopetrosis with renal Osteopetrosis, cerebral Distal renal tubular AR tubular acidosis (carbonic calcifications, stunted acidosis anhydrase II deficiency) growth, pecular facies, renal tubular acidosis Oto-palato-digital (OPD) Short stature, characteris- Renal hypoplasia XL syndrome tic craniofacial features. cleft palate, conductive deafness, bone dysplasia Pancreatic insufficiency Metaphyseal changes of Renal glycosuria, ami- AR and bone marrow dys- femurs and ribs, short noaciduria, renal acidosis, function (Scwachman- stature, bone marrow hy- nephrocalcinosis Bodian) poplasia, exocrine pancreatic insufficiency Pernicious anemia, juve- Megaloblastic anemia, Proteinuria, aminoacidu- AR nile, due to selective in- weakness, failure to ria, mesangioproliferative testinal malabsorption of thrive, CNS symptoms, glomerulonephritis, renal vitamine B" with pro- proteinuria calculi, double collecting teinuria (Imerslund- system, narrow calyces Grasbach) Photomyoclonus diabetes Same Hereditary nephropathy, ?AD mellitus, deafness, ne- aminoaciduria and other phropathy, cerebral renal tubular defects dysfunction 476 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Pneumothorax, sponta- Same Obstructive uropathy, po- Sporadic neous and/or pneumome- lycystic kidneys diastinum, urinary tract anomalies Poland syndrome Unilateral aplasia of pec- Renal aplasia or hypopla- Sporadic toralis major with ipsilat- sia, double collecting eral symbrachydactyly system and hypoplasia and aplasia of breast and nipple Polyarteritis nodosa Fever, myalgia, arthralgia, Proteinuria, hematuria, fi- abdominal pain, brinoid arterial necrosis, hypertension renal failure Polycystic kidneys, inter- Same Polycystic kidneys AR nal hydrocephalus, polydactilism Polydactyly with neonatal Hydrops fetalis, polydac- Cystic, dysplastic and hy- AR chondrodystrophy, Type I tyly, short limbs, metaph- poplastic kidneys; cystic (Saldino-Noonan type) yseal dysplasia of tubular and hypoplastic ureters bones, death in neonatal period Polydactyly with neonatal Medial cleft lip, polydac- Cystic kidneys AR chondrodystrophy, Type tyly, short limbs, genital II (Majewski type) abnormalities, death in perinatal period Polydactyly with neonatal Thoracic narrowing, hy- Dysplastic kidneys ?AR chondrodystrophy, Type poplastic lungs, short cra- III (Naurnofftype) nial base, death in perinatal period Polyposis, intestinal II Mucocutaneous pigmen- Polycistic kidneys, ure- AD (Peutz-Jeghers) tation, GI polyposis teral polyposis, urolithiasis Polyposis, intestinal III Colon polyposis, epider- Hydronephrosis AD (Gardner) mal cysts, osteomas Proteinuria, low molecu- Same Low molecular weight ?AR; ?XL lar weight, hyperlipopro- proteinuria, teinemia, mental glomerulonephritis retardation "Prune belly" syndrome Congenital absence of ab- Dilated urinary tract, d ys- Sporadic dominal musculature, uri- plastic, aplastic, multicys- nary tract abnormalities, tic and hydronephrotic cryptorchidism kidneys Pseudoaldosteronism Hypertension, hypoka- Hypertension ?AD (Liddle) lemic alkalosis Appendix IV: Conditions and Syndromes 477

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Pseudohypoaldoster- Failure to thrive, severe Glomerular sclerosis, tu- AD onism dehydration, hyperkale- bular dilation mia, elevated plasmaq aldosterone

Pseudoxanthoma Xanthoma-like skin le- Renal artery stenosis AR;AD elasticum sions, diminished vision and peripheral pulses, hypertension, hemangiomas Pseudo-vitamin D-defi- Hypocalcemia, hypotonia, Mild renal tubular aci- AR ciency rickets rickets, growth dosis, aminoaciduria retardation

Pulmonary stenosis and Same Congenital nephrotic ?AR congenital nephrosis syndrome

Pyloric stenosis Hypertrophic pylorus, Polycystic, horseshoe and Multi- vomiting hypoplastic kidney; dou- factorial ble collecting system, hydronephrosis

Radial-renal syndrome Radial ray aplasia, short Unilateral renal agenesis, AD stature, renal anomalies crossed ectopia

Regional enteritis (Crohn) Abdominal pain, diar- Nephrotic syndrome, ? rhea, weight loss, growth nephrolithiasis, hydrone- retarda ti 0 n phrosis, hydroureter, il- eovesical fistulae

Renal and intestinal dis- Chronic diarrhea, villous Tubulointerstitial and ?AR ease with tissue atrophy of small intes- membranous nephritis autoantibodies tine, chronic pancreatitis, elevated IgE and IgA levels, dermatitis Renal disease (cystic), Same Polycystic, medullary; ?AR cataract, congenital cystic and microcystic blindness renal disease Renal disease, deafness Progressive deafness, cat- Proteinuria, renal ?AD and ocular changes aracts, myopia, marfan- insufficiency oid habitus, renal disease

Renal disease, deafness, Same Proteinuria, hematuria, ?AR myopia renal insufficiency

Renal disease (heredi- Same Proteinuria, hematuria, ?AR tary), neurosensory hear- renal cysts and calculi, ?AD ing loss, prolin uria, glomerular sclerosis, renal ichthyosis failure

Renal dysplasia and reti- Tapetoretinal degenera- Nephronophthisis, renal AR nal aplasia (Loken- tion, retinal dysplasia, dysplasia, uremia Senior) renal anomalies 478 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Renal, genital and middle Abnormal facies, low Renal agenesis or hypo- ? ear anomalies folded ears, renal abnor- plasia, hemiatrophy of mali ties, vaginal atresia, urinary bladder deafness secondary to middle ear anomalies Renal hamartomas, ne- Large birth size, unusual Large kidneys, immature AR phroblastomatosis, fetal facies, tendency to neo- glomeruli, renal hamarto- gigantism (Perlman) plasia, death in neonatal mas, hydronephrosis, period nephroblastomatosis Renal, hepatic and pan- Hepatomegaly; hepatic, Renal dysplasia, pyelone- AR creatic dysplasia pancreatic and renal phritis, renal failure dysplasia Renal insufficiency, deaf- Same Chronic glomerulonephri- XL ness, cataract, integument tis, renal failure and skeletal abnormalities, susceptibility to infection, and mental retardation Renal tubular acidosis Same Distal renal tubular AR with nerve deafness acidosis Retinal blindness, con- Same Polycystic kidneys, glo- ?AR genital polycystic kidneys, merular sclerosis brain maldevelopment Retinal dysplasia, cata- Same Polycystic kidneys, med- ?AR racts, cystic kidneys ullary cysts Rheumatic fever Fever, arthritis, carditis, Hematuria, focal or dif- other systemic fuse glomerulonephritis, involvement rheumatic arteritis Rheumatoid arthritis Polyarthritis, joint stiff- Proteinuria (40%), hyper- ? ness, low-grade fever, tension (30%), hematuria organomegaly (25%), urinary tract infection (20%), amyloidosis, glomerulonephritis, nephrosclerosis Rieger (iridogoniodysge- Hypodontia, malforma- Hypospadias AD nesis with somatic tion of anterior chamber anomalies) of eye, myotonic dystrophy Roberts syndrome Hypomelia, midfacial de- Polycystic, horseshoe, or AR feet, severe growth hydronephrotic kidney; retardation ureteral stenosis Robinow dwarfism Mesomelic dwarfism, Duplication of urinary AD hemivertebrae, character- tract, hydronephrosis istic facies, hypoplastic external genitalia Appendix IV: Conditions and Syndromes 479

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance

Rubella, congenital Small for date, microce- Polycystic and unilateral phaly, cataracts, heart de- agenetic kidney, glomeru- fects, hepatosplenomegaly lar sclerosis, nephrocalcinosis, double collecting system, hypospadias Rubinstein-Taybi Broad thumbs and great Renal calculi: nonfunc- ? syndrome toes, characteristic facial tioning, aplastic or extra abnormalities, mental kidney, double renal pel- retardation vis dilated ureter, posterior urethral valves

Rudiger syndrome Coarse facial features, UV junction obstruction ?AR lack of ear cartilage, bifid uvula, brachydactyly Typhoid fever (Salmo- Fever, rose spots, stupor, Occurs in 2-3% of pa- nella Iyphi) splenomegaly, symptoms tients; tubulointerstitial of other organ disease, oliguric renal fail- involvement ure, immune complex nephritis

Sarcoidosis Feber, arthralgias, pulmo- Interstitial granulomas ') nary hilar adenopathy on and inflammation, ne- X-ray phrocalcinosis, renal failure

Schinzel-Giedion midface Midface hypoplasia, bra- Hydronephrosis, AR retraction syndrome chymesomelia, hypoplasia hypospadias of distal phalanges, clubfeet, hypertrichosis, seizures

Scleroderma Morphea, progressive sys- Rare in children; protein- ? temic sclerosis, organ sys- uria, hematuria, renal tern involvement failure Schwartz-lampel-Aberfeld Myotonia, short stature, Microcystic kidney AR syndrome (chondrodys- blepharophimosis, joint disease trohic myotonia) contractures, myopia, pi- geon chest Shprintzen syndrome Dysmorphic facies, om- Hypospadias AD phalocele, hypoplastic lar- ynx, learning disabilities

Sickle cell disease Characteristic anemia, fe- Papillary necrosis, corti- AR ver, pain, infection cal infarcts, nephrosis with minimal change or MPGN, hematuria, proteinuria

Silver-Russell dwarfism Prenatal-onset short stat- UP junction obstruction, ? ure, skeletal asymmetry, VU reflux, pyelonephritis small in curved 5th finger 480 Arnin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Sirenomelia Fusion of limbs, incom- Renal agenesis, absent Sporadic plete development of cau- bladder dal structures, absence of rectum and genitalia Smith-Lemli-Opitz (RSH) Growth retardation, mi- Rotated, hypoplastic, dys- AR syndrome crocephaly, mental retar- plastic or multicystic kid- dation, abnormal facies, ney; cortical cysts, hypospadias, hypospadias microphallus Spherocytosis Anemia, intermittent Polycystic kidneys AD jaundice, splenomegaly Spina bifida Asymptomatic or neuro- Ureteral duplication, neu- ? logical symptoms, urinary rogenic bladder incontinence Spondylocostal dysplasia Vertebral anomalies, bar- Unilateral agenesis and AR reI-shaped chest, rib de- ectopia of kidney; fects, short neck hydronephrosis Sucrosuria, hiatus hernia Same Sucrosuria ?AR and mental retardation Syndactyly, Type V Metacarpal and metatar- Renal hypoplasia, bladder AD sal 3-4 or 4-5 fusion extrophy Syphilis Rhinitis, rash, bone in- Occurs in 0.3% of pa- volvement, other protean tients, nephrosis, rarely and latent manifestations acute and interstitial nephritis, gumma of kidney Tachycardia, paroxysmal; Same, microphthalmos, Urolithiasis ? hypertension, seizures cataracts, hyperglycinuria Takayasu's disease Fever, hypertension, renal Hypertension (70%), renal ? vascular lesions, weight vascular lesions (60%) loss, arthralgia Telangiectasia, hereditary Generalized telangiecta- Telangiectasias of urinary AD hemorrhagic of (Rendu, sias, bleeding, liver bladder Osler and Weber) disease Testicular regression (XY Absence of gonads in an Interstitial nephritis, end- ?AR gonadal agenesis) XY person stage renal disease Thalassemia B Anemia, growth retarda- Distal renal tubular AR tion, hepatomegaly acidosis Thalidomide Limb defects Renal agenesis, cystic embryopathy dysplasia, hydronephrosis Thanatophoric dwarfism Short-limb dwarfism, nar- Hydronephrosis, horse- AD row thorax, large cran- shoe kidney ium, respiratory distress, hypotonia Appendix IV: Conditions and Syndromes 481

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities I nheri tance

Thyro-cerebro-renal Goiter, cerebellar ataxia, Tubulointerstitial ?AR syndrome seizures, sensorineural nephritis deafness, muscle wasting, thrombocytopenia

Thyrotoxicosis, renal dis- Same Proteinuria, hematuria, ?AR ease and absent frontal proliferative sinuses glomerulonephritis

Torticollis, keloids, cryp- Congenital muscular tor- Renal dysplasia, pyelone- ?XL torchidism and renal ticollis, multiple keloids, phritis, hypertension, dysplasia cryptorchidism, renal nephrosclerosis, urethral abnormalities meatal stenosis, UP junction obstruction

Trichopoliodystrophy Ceruloplasmin deficiency, Hydronephrosis, hydro- XL (Menkes) copper malabsorption, ureter, VU reflux, neuro- peculiar hair, progressive genic bladder, bladder neurological impairment diverticula

Trichorhinophalangeal I Thin, sparse hair, bul- Generalized AD bous nose, protruding aminoaciduria ears, peripheral dysostosis, variable mental retardation

Trichorhinophalangeal Thin, sparse hair, bul- Small scarred kidney, ?AD syndrome, Type II (Lan- bous nose, multiple exos- renal hypertension ger-Giedion syndrome) toses, mental retardation, microcephaly

Trimethadione, fetal Small for date, microce- Hypospadias phaly, malformed ears, irregular teeth

Tuberculosis Systemic manifestations Sterile pyuria, hematuria, or those related to spe- renal necrosis and caseat- cific site of infection ing granulomas with de- struction of collecting system, diffuse miliary renal parencymal lesions, glomerulonephritis, nephrosis

Tuberous sclerosis Epilepsy, mental retarda- 40-80% of patients have AD tion, adenoma sebaceum, renal angiomyolipomas; retinal phakomas cystic kidneys, adenomas or renal cell carcinoma

Tyrosinemia, hereditary Hepatosplenomegaly, Proteinuria, tubular AR rickets, failure to thrive dysfunction

Ulcerative colitis Bloody diarrhea, abdomi- Nephrolithiasis nal cramps, weight loss 482 Amin Y. Barakat

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Ulnar-mammary syn- Abnormal development Unilateral renal agenesis, ?AD drome of Pallister of ulnar rays, axillary malrotation apocrine glands and vertebral column Uterine anomalies with Uterovaginal duplication, Unilateral renal agenesis Sporadic; unilateral renal agenesis hematocolpos AD Vagina, absence of (Roki- Vaginal atresia, rudimen- Renal agenesis and hypo- Sporadic tansky-Kuster-Hauser tary uterus, primary plasia, double renal pelvis ?AR syndrome) amenorrhea and ureters, pelvic and solitary fused kidney, caliectasis VATER association Vertebral anomalies, Anal Renal agenesis or ectopia; ? atresia, T-E fistula, Ra- hydronephrosis; UP junc- dial dysplasia tion stenosis; hypospadias; recto urethral, vaginal and vesical fistulae Von-Hippel-Landau Cerebellar with retinal or 67% of patients may have AD syndrome spinal cord hemangiob- renal adenoma, carci- lastomas, pancreatic cysts noma or cysts; pheo- and renal lesions; symp- chromocytoma; toms related to cerebellar ureterocele or retinal tumors Wegener's granuloma Fever; cutaneous vasculi- Segmental necrotizing tis; arthralgia; renal, car- and crescentic glomerulo- diac and CNS nephritis, renal involvement granulomas Weyers' oligodactyly Ulnar ray defects with Horseshoe kidney, ure- Sporadic syndrome oligodactyly, antecubital teral duplication pterygia, sternal anomalies, cleft lip/palate Williams-Beuren Elfin face, supravalvular Nephrosis, pyelonephritis, AD syndrome aortic stenosis, mental interstitial, nephritis, pro- and growth deficiency, in- teinuria, renal failure, fantile hypercalcemia renal artery stenosis, segmental renal hypoplasia Wilson's disease (hepato- Ceruloplasmin deficiency, Nephrocalcinosis, renal AR lenticular degeneration) severe neurological tubular acidosis, abnormalities aminoaciduria Wohltman-Caglar Polyuria, polydipsia, ele- Juxtaglomerular appara- Sporadic syndrome vated renin, tus hyperplasia normotension WoJcott- Rallison Early-onset diabetes mel- Renal insufficiency AR syndrome litus, multiple epiphyseal dysplasia Appendix IV: Conditions and Syndromes 483

Syndrome, Disease, Renal and Urinary Tract Condition Main Features Abnormalities Inheritance Wolfram (Didmoad) Diabetes insipidus and Hydronephrosis, hydro• AR syndrome mellitus, sensory deaf• ureter, nephrosis, neuro• ness, optic atrophy genic bladder. sclerosis of bladder neck Xanthinuria (xanthine Increased urinary excre• Urolithiasis AR oxidase deficiency) tion of xanthine and hy• poxanthine, hypo uricemia

Chromosomal Aberration Renal and Urinary Tract Abnormalities Autosomal trisomies Trisomy 8 75% of patients affected; hydronephrosis. horseshoe and nonfunctioning kidney, bifid pelvis. YU reflux Trisomy 13 50-60% of patients affected; cystic, agenetic. horseshoe and hydronephrotic, kidney, duplication of urinary tract, fetal lobulation of kidney, megacystis, UY ob• struction, bladder neck stenosis Trisomy 18 Duplication of urinary tract (33-70%); horseshoe, cys• tic, hydronephrotic, ectopic, aplastic and hypoplastic kidney; glomerulosclerosis, Wilms' tumor, dysplasia, hamartoma, fetal lobulation and rotational anomalies of the kidney Trisomy 21 Abnormalities occur in about 7% of cases: aplastic, hypoplastic, cystic and horseshoe kidney: hydrone• phrosis. hydroureter. ureteral stenosis, immature glo• meruli, hypoplastic bladder, urethral valves I q23 or 5-->qter trisomy Renal cysts and calcifications, hydronephrosis 2q21 ->qter trisomy Ectopic, dysplastic and horseshoe kidney: ureteral atresia 2q3 trisomy YU reflux 3q2 trisomy Cystic dysplasia, calcification and duplication of kid• ney; accessory kidney 4p 14->pter trisomy Renal agenesis, rotated kidneys, intra renal pelvis 4q2 or 3 trisomy Cystic, aplastic, hypoplastic and horseshoe kidney; YU reflux, hydronephrosis, hydroureter 6p21-->pter trisomy Horseshoe and hypoplastic kidney, triple renal artery. double renal vein 6p2 trisomy Proteinuria, small kidneys 6q21-->qter trisomy Renal dysplasia 7q3 trisomy Hydronephrosis. hydroureter 8p trisomy Ureteral stenosis, absent bladder 484 Amin Y. Barakat

Chromosomal Aberration Renal and Urinary Tract Abnormalities 8q2 trisomy Hydronephrosis, hydroureter 9 trisomy Cystic kidneys 9 trisomy mosaicism Renal cysts 9p trisomy Hydronephrosis, horseshoe kidney 9q3 trisomy Hydroureter 10 trisomy mosaicism Immature glomeruli lOp ll->pter trisomy Rotated, aplastic, cystic, dysplastic and double kid• neys; megaplastic and aplastic ureter IOq2 trisomy Renal failure; hypoplastic, dysplastic, cystic, hydro• nephrotic and double kidneys, double collecting system llpl5 trisomy Large kidneys, Wilms' tumor II q2 trisomy Renal agenesis, VU reflux l2q2 trisomy Hydronephrosis, ureterocele, pelvic kidney l2q24.l->qter Ureterocele, hydronephrosis, ectopic and aplastic kidney l3q2 or 3 trisomy Double renal artery, unspecified renal abnormalities 14 trisomy mosaicism Renal failure l7q2l->qter trisomy Hypoplastic and cystic kidneys, hyperplastic urinary bladder 17q23->qter trisomy Unspecificed urinary tract malformations 18pter-> 18q21.2 trisomy M ulticystic kidneys, ureteral agenesis 18q2 trisomy Polycystic and ectopic kidneys, VU reflux, hydro• ureter, unspecified renal malformations 19q 13->pter trisomy Hydronephrosis, hydroureter; ectopic, malrotated and cystic kidneys 20p trisomy Hydronephrosis, polycystic kidneys, double collecting system Partial 22 trisomy Renal ectopia and hypoplasia

Autosomal monosomies 4p- 33% of patients affected; agenetic, hypoplastic, hydro• nephrotic and nonfunctioning kidney; VU reflux, pye• lonephritis, dilated collected system, hypospadias 5p- (Cri-du-chat) 40% of patients affected; ectasia of distal tubules, cys• tic and horseshoe kidney, duplication of urinary tract 8(q21->qter) Hydronephrosis 18 q- 40% of patients affected; polycystic, aplastic, ectopic and horseshoe kidney; hydronephrosis, hydroureter Iq42 or 43->qter monosomy Solitary kidney, VU reflux Appendix IV: Conditions and Syndromes 485

Chromosomal Aberration Renal and Urinary Tract Abnormalities 3pll-->pl4.2 monosomy Horseshoe kidney 4q31-->qter monosomy Ectopic kidney, double collecting system 4q3 monosomy Double collecting system, hydronephrosis. lobulated kidneys Sq13-->q22 monosomy Horseshoe kidney 6qI3-·qI5 monosomy Ectopic kidney

7p13-~p21 monosomy Hydronephrosis, renal dysplasia, ureteral diverticuli, ureterocele, double collecting system lOp 13-->pter monosomy Cystic and segmental renal dysplasia, double collecting system. hydronephrosis, hydroureter Ilpll monosomy Horseshoe kidney IIpl3 monosomy Wilms' tumor, mal rotated kidney, pyelonephritis. hypertension II q22 or 23-->qter monosomy Renal duplication, hydronephrosis IIq2 monosomy Multicystic kidneys, double collecting system, hydronephrosis 13q monosomy UV obstruction. hydronephrosis, hydroureter 13q3 monosomy Hypoplastic kidneys ISq22-->q24 Cystic renal dysplasia 17p 11.2 monosomy 22% of patients may be affected; enlarged or solitary kidney, hydroureter, hydropelvis, malpositioned UV junction l8p monosomy Unspecified renal malformations 21q monosomy Aplasia, dysplasia and abnormal shape of kidney 22q 12 monosomy Dysplastic and cystic kidneys

Sex Chromosomes Turner syndrome (XO) 60-80% of patients affected; horseshoe kidney (com• monest); duplications and rotational anomalies; hy• dronephrotic, ectopic, ptotic, aplastic. hypoplastic and cystic kidney; urethral meatal stenosis; hypertension, double renal artery, UP and UV junction stenosis Klinefelter's syndrome (XXV) Renal cysts, hydronephrosis, hydroureter, ureterocele, chronic glomerulonephritis 49,XXXXX Renal hypoplasia and dysplasia Fragile X syndrome UP junction stenosis

Other chromosomal aberrations Triploidy (69 chromosomes) Cystic renal dysplasia and hydronephrosis (50%), fetal lobulations, pelvic kidney 486 Amin Y. Barakat

Chromosomal Aberration Renal and Urinary Tract Abnormalities Tetraploidy (92 chromosomes) 50% of patients affected; renal hypoplasia and dyspla• sia, pyelonephritis, megaureter, VU reflux, urethral stenosis Cat-eye syndrome 60-100% of patients affected; renal agenesis, hypopla• sia and cystic dysplasia; horseshoe and pelvic kidney; UP junction obstruction; VU stenosis and reflux; hy• poplastic urinary bladder, chronic pyelonephritis 2q3 trisomy!7p22 monosomy Renal hypoplasia 9p tetrasomy Renal hypoplasia 18p tetrasomy Malrotated and horseshoe kidney, double ureter r(lO) Renal failure, hydronephrosis, hydroureter r(13) Aplastic, hypoplastic or ectopic kidney r( 15) Incomplete duplication of kidney r(l8) Ectasia of proximal tubules, hydronephrosis, megaure• ter, VU obstruction r(21) Renal agenesis, ureteral anomaly Small marker chromosome of un- Hypoplastic kidney, hydronephrosis, VU reflux known origin

Bibliography Barakat AY, Butler MG (1987) Renal and urinary tract abnormalities associated with chromosome aberrations. Intern J Pediatr Nephrol 8: 215-226 Barakat AY, Dakessian B (1986) The kidney in heart disease. Intern J Pediatr Nephrol7: 153-160 Barakat AY, Der Kaloustian VM, Mufarrij AA, et al (1986) The Kidney in Genetic Disease. Churchill Livingstone, Edinburgh Barakat AY, Noubani H (1986) The kidney in hematologic disease. A review. Intern J Pediatr Nephrol 7: 207-212 Barakat AY, Seikaly MG, Der Kaloustian VM (1986) Urogenital abnormalities in genetic disease. J Urol 136: 778-785 de Grouchy J, Turleau C (1984) Clinical Atlas of Human Chromosomes, 2nd edn. John Wiley and Sons, New York Gilli G, Berry AC, Chantler C (1987) Syndromes with a renal component. In: Holliday MA, Barratt TM, Vernier RL (eds) Pediatric Nephrology, 2nd edn. McGraw-Hill, New York, pp 384-404 Holliday MA, Barratt TM, Vernier RL (eds) (1987) Pediatric Nephrology, 2nd edn. Williams and Wilkins, Baltimore Jones KL (1988) Smith's Recognizable Patterns of Human Malformation, 4th edn. WB Saunders, Philadelphia Mc Kusick VA (1988) Mandelian Inheritance in Man, 8th edn. Johns Hopkins University Press, Baltimore Appendix IV: Conditions and Syndromes 487

Stanbury JB, Wyngaarden JB, Fredrickson DS, et al (eds) (1983) The Metabolic Basis of Inherited Disease, 5th edn. McGraw-Hill, New York Suki WN, Eknoyan G (eds) (1981) The Kidney in Systemic Disease. John Wiley and Sons, New York Zonona J, Di Liberti JH (1983) Congenital and hereditary urinary tract disorders. In: Emery AEH, Rimoin DL (eds) Principles and Practice of Medical Genetics. Churchill Livingstone, Edinburgh, pp 987-1001 Index

A and respiratory, 265 Abdomen, physical examination, 24- and respiratory alkalosis, 266 26 and pH, 241 Abdominal musculature, see Muscula• renal tubular, see Tubular disease ture, abdominal (renal) acidosis Abuse, sexual, 27 respiratory, and metabolic alkalosis, ACE (angiotensin-converting enzyme) 266 inhibitor, 320, 324 Acute renal failure (ARF), 6, 135- Acetoacetic acid (ketone body), see 136,269-284 Ketones clinical approach, 282 Acid-base disturbances, 1, 5, 58-61, complications, 279-283 233-268 diagnosis, 270-273, 276 and hypokalemia, 221-224 etiology, 273-274 measurement, 237-239 table, 275-276 mixed disorder, 241, 263-264 reversibility, 277-279 diagnosis, 265-266 Acute tubular necrosis (ATN), see physiology, 234-240 Tubular necrosis, acute regulation, 239-240 Adaptive mechanisms, renal, 289- single element, 240-243 291 see also Electrolyte disturbance Adenoma sebaceum, 23 Acidemia, 241 ADH (antidiuretic hormone), 11, 19, clinical implications, 290 n 74 see also Acidosis stimulation, 211-212 Acidification, distal and hyponatremia, 213 hydrogen ion secretion, 250-251 see also SIADH urine pC02, 251 Adrenal gland, lesions, 106 phosphate administration, 252 Adrenocortical disorders and hyper• Acidosis tension, 324-326 and hypokalemia, 222-223 Adult polycystic kidney disease, see lactic, 64 Polycystic kidney disease, adult metabolic, 23-61, 241-248 (APKD) in ARF, 280-281 Age characteristics, 244 chronological, 292 compensation, 243-244 dental, 294 in CRF, 295 of patient, criteria for transplanta• etiology, 244-245 tion, 372 490 Index

Agenesis, renal, 17 hereditary, 189 bilateral, 388 Aminoglycosides, see Antibiotics, and oligohydramnios, 401 aminoglycosides prenatal diagnosis, 386 Aminolevulinic acid, normal levels, AIDS nephropathy, 180 46 Albumin Ammonia measurement, 66 excretion rate (pediatric), 143 Ammonium biurate crystals, see Crys• measurement and analysis, 67 tals, urinary serum, see Serum albumin Ammonium chloride (NH4Cl) load• Albuminuria, 67-69 ing, urinary H+ excretion, 250- Aldosterone 251 and hyperkalemia, 229 Ammonium magnesium phosphate and hypokalemia, 223 (triple phosphate) crystals, see Alkalemia, 241 Crystals, urinary Alkalosis Amniocentesis, 387 and hypokalemia, 223 Amnion nodosum, 17 metabolic, 141, 255-258 Amniotic fluid and prenatal diagno- compensation, 242 sis, 386 differential diagnosis, 257-258 Amphotericin B, 21 etiology, 257 ANA, see Antibodies, antinuclear and respiratory acidosis, 266 Analysis, statistical, 408 metabolic and respiratory, 265-266 Analytes, 61-69 and pH, 241 Anatomy, renal vasculature, 330 Anemia, 24, 175 volume-expansion, 256 in CRF, 300-301 Allergies, 15 treatment of, effect on TBK, 221 recurrent treatment for, 172 Aneurysm, 26 Allografts Angiography living-related donor, 377 digital intravenous, in urological in• Cadaveric graft see also vestigations, 330 Alpha-feto protein venous digital subtraction (DSA), determination, 397 321-322 maternal, elevated, 386-387 see also Arteriography, renal; Ve• Alport's syndrome, 3, 16, 23, 28, 140 nography, renal diagnosis, 118 Angioplasty, transluminal, 111 genetic screening, 399 Angiotensin converting enzyme in di• Aluminum concentration, 299-300 abetes, 366 Aluminum hydroxide gels, contraindi• Angiotensin I, measurement, 322-323 cation in CRF, 303 Angiotensin II, 323 Aluminum silicate, see Lloyd's in hypertension, 324 reagent Anion gap (AG), 237-239 American Heart Association, 313 acid-base disorders, Amino acids, urinary diagnostic, 244-245, 252 analysis, 188-191 measurement, 238 normal range, 45 acidosis, 290 Aminoacidurias, 5, 45 calculation, 59 characteristics, 188-191 Aniridia, 18, 23 dibasic, 190 sporadic, 110 dicarboxylic, 187, 190 Anomalies generalized, 191-192 asymptomatic, 26 Index 491

genitourinary, 17, 19, 22 protocol in neonates, 110 renal, 140 Arteriovenous fistula, see Fistula, renal tract (fetal), management, arteriovenous 391-392 Arthritis, juvenile rheumatoid (JRA), skeletal, 20, 27 362 see also Congenital abnormalities Ascites, nephrotic, 26 Anorexia, 21 Ask-Upmark kidney, see Dysplasia, and glomerular disease, 172 segmental renal Anthropomorphic measurements, see Asphyxia neonatorum and hyperten• Growth, assessment sion, 317 Anti-thymocyte globulin (ATG), 373 ATN, see Tubular necrosis, acute Antibiotics Atresia aminioglycosides, 21, 28 esophageal, 19 crystals of, see Crystals, urinary gastrointestinal, 18 and electrolyte disturbances, 224- rectal, 19, 26 225 therapy Audiogram, 3, 175 and MGN, 179 Azathioprine, 372-373 nephrotoxicity, 364 Azotemia, 5, 22 Antibodies, antinuclear, 175 diagnosis in ARF, 270-271 in Henoch-Schonlein-like purpura, 360-361 B in SLE, 361 Bacteremia, 159 Antibodies, streptococcal, 363 Bacteriuria, 32, 50, 161-162 Anticoagulants, 58-69 asymptomatic, 158 Anticonvulsant therapy, 195 detection and analysis, 43-44, 159- Antidiuretic hormone, see ADH (anti- 163 diuretic hormone) significant, 158, 161 Antigen detection, see Immunopathol• site localization in UTI, 165 ogical studies see also Microbiology of UTI Antigens and transplant donor (liv- BAP (blood agar) plate in urine cul• ing), 377-378 ture, 162-163 Antimicrobial susceptibility, 163 Bartter's syndrome, 5, 81, 187 Anuria, 4, 11,51 characteristics, 204 Aorta, coarctation of, 15, 313 diagnosis, 205 and echocardiography, 322 and hypokalemia, 224 APKD, see Polycystic kidney disease, magnesuria in, 200 adult (APKD) Appearance, physical, 21 urine chloride, 258 Arbus nomogram, 243 Basement membrane, 129 ARF, see Acute renal failure (ARF) antibodies, 131 Arm circumference, upper measure- stains, 128 ment, 294 Bayley, infant development scales, Arrhythmia, 19 295, 303 ARTEMIS system in hypertension, Benedict's test, 41 computerized monitoring, 410 Benzoic acid compounds, tri-io• Arterial stenosis, renal, see Stenosis, dinated, 86-87 renal artery Beta2-microglobulin excretion, 144 Arteriography, renal, 108-112 in neonates, 143 and hypertension, 320 Beta-hydroxybuteric acid, see Ketones 492 Index

Bicarbonate (HCO;) Blood in blood analysis, in Henoch-SchOnlein pur• mixed acid-base disorders, 263- pura, 359 264 disorders, 300-301 pH regulation, 239 laboratory analysis plasma concentration, 235-238, in CRF, 296 243 in nephrolithiasis, 351-352 respiratory acidosis, 258-259 whole respiratory alkalosis, 261-262 analysis, 58-59 see also Blood gas analysis total buffer base, 236-237 tubular reabsorption, 248-249 Blood agar plate, see BAP (blood in urine, 246 agar) plate Bilirubin in urine, 32, 38 Blood cells in urine, see Urine, blood dectection and analysis, 43 cells in Biopsy, bone, 300 Blood flow, renal, see RPF (renal Biopsy, renal, 4, 163 blood flow) in ARF, 277 Blood gas analysis, 60-61 diagnostic, 171-1 72 Blood pressure, 3, 23 open surgical, 129, 131 in children, 307-308 percutaneous, 117-132 age and sex specifics, 308-311 complications, 124 measurement, 308-315 contraindications, 123-124 cuff, 22 size, 308, 313 indications, 118, 120-121, 141, and diabetes, 366 148, 154 see also Hypertension interpretation of, 127-128 Blood sampling, percutaneous umbili• limitations, 119 cal (PUBS), 387 nondiagnostic lesions, 119-120 Blood type and transplant donor (liv• postbiopsy care, 126-127 ing), 377 procedure, 124-126 Blood urea nitrogen (BUN) precautions, 175 in azotemia diagnosis, 270-271 Bladder measurement, 64 catheterization, see Catheterization, see also Urea measurement bladder BMDP, computer program, 408, 410 contraction, uninhibited, 12 Body surface area, nomogram, 441 defunctionalized, and renal trans• Bone, mineral content, 300 plant, 374 Bmnsted-Lowry concept, 235 injury, 3, 14 BUN, see Blood urea nitrogen (BUN) neurogenic, 12, 20, 334 Burr cells, 301 self-catheterization, 375 outlet obstruction, 12, 27 C

exstrophy of, 19, 26 C3 complement, see Complement pro•

vcua, role of, 90 teins, C3 palpable, 26 Cadaveric graft (renal), survival rate, suprapubic tap, 27 373 washout analysis, 163-164 in cystinotic patients, 377 Bladder stones, see Calculi, bladder Calcification Bleeding, uncontrollable, see imaging, 108 Hemorrhage stains, 128 Index 493

Calcium (Ca) Catecholamines, 326 deficiency, 195 Catheter, intravascular (IV), infection, dietary, 13 renal involvement, 364 and calculi, 344 Catheterization measurement, 61-62 bladder, 33, 89, 100 Calcium carbonate, urinary, crystals, cardiac, kidney visualization dur• 52 ing, 19 Calcium oxalate, 33 contraindications, 174 calculi, 342-344 ureteral, 163 crystals, 52 Catheters Calcium oxalate/uric acid calculi, 352 and hypertension, 317 Calcium phosphate calculi, 342-344 intraarterial, 308 Calcium phosphate crystals, 52 Cellular casts, see Casts, urinary see also Crystals, urinary Central nervous system, see CNS Calculi,2, 13 Chemical analysis bladder, 342 in renal disease, 55-70 calcium oxalate/uric acid, 352 of urine, 37-38 composition and formation, 342- Chemotherapy, 21 343 Child abuse/neglect, 195 cystine, 343, 347 Chlorambucil, 178 renal, 3, 341-357 Chloremia, 59 hematuria in, 140 Chloride (Cl), urine excretion, 44 imaging, 95 analysis for, 59 urethral, 342 fractional, 81 urinary, clinical disorders associ• in metabolic alkalosis, 258 ated with, 343 Cholesteral crystals, see Crystals, Candida, 161 urinary see also Yeast, urinary Chorionic villus sampling (CVS), 387 Carbohydrate metabolism disorders, 40-41, 45 Chromatography, 45 Chromosomal aberrations, prenatal Carbon dioxide (C02) in blood, 235 diagnosis, 386-388 Chromosomal karyotyping, 397 see also pC02 Carbon dioxide measurement, see Chronic renal failure (CRF), 6, 12, Blood gas analysis 15,21,23,285-305 clinical assessment, 291-303 Carbonic acid (H2C03), in blood, 235-236 etiology, 287-289 Cardiac disease incidence, 287-288 defects, congenital, 19 pathophysiology, 289, 291 examination, physical, 24 CIE, see Immunoelectrophoresis, Cardiovascular disorders counter current in ARF, 281 Cisplatin and hypomagnesemia, 200 in CRF, 301-302 Citrate Cardiovascular system analysis for, see Urinalysis and hypertension, 315 calcium calculi inhibitor, 344 patient history, 19 Clearance (C), calculations, 435 Casts, urinary, 32, 47 Clearance methods, 71-84 diagnostic significance, 50-51 GFR,74-79 morphology, 50 osmolar, 71-74 494 Index

Clearance methods (cont.) clearance, 65 plasma, 72 calculation, 77 RPF,79 levels, 46 Clonidine suppression, 326 nomogram, 442 CNS pathology, 20 and renal function, 79 Cohen nomogram, 238 measurement, 65 Collagen disease, renal involvement, plasma, in neonates, 78 357-369 serum Complement proteins, 175, 179 as index of GFR, 77

C3, 175, 177-179 relationship to renal failure, 78-

C4, 178 79

C5, 179 urinary measurement and analysis, 68 as index ofGFR, 75-76 in SLE, 361 measurement, 3, 33 Computers, medical use of, 407-412 Creatinine phosphokinase, 136 Concentrating ability, renal, 35-37 CRF, see Chronic renal failure in UTI, 164 Cryoglobulinemia, diagnosis, 361 Confidentiality, patient, 409, 412 Cryptorchidism, see Testes, Congenital abnormalities, 2, 7, 17, 22 undescended intervention, 401 Crystalluria, 13 patient history, 18-20 and calculi formation, 347-349 renal, 11, 18, 26 Crystals and ARF, 274 stains, 128-129 renal involvement, 395-396, 455- urinary, 52 487 appearance, 53 urinary tract, perinatal investiga• cystine, 191, 348 tions, 336-337 formation, 347-349 see also Metabolism disorders CT (computed tomography), 86 Connective tissue disease, mixed in CRF, 303 (MCTD),362 metrizamide-enhanced, 107 Consent, informed, 108, 125 renal, in hypertension, 322 Consultation technique, 100-103 clinicopathological, 118 in urological investigations, 330- on-line service, 412 331 Contrast compounds, see Radiopaque Culture, urine, 2-4, 22 contrast materials diagnostic, 398 Control (urinary), voluntary, 12 in nephrolithiasis, 349 Copper reduction test, see Benedict's specimen collection, 32, 159-160 test contamination, 159-160 Coproporphyrin, see Porphyrins technique, 162-163 Corticoids in UTI, 166 adrenal, 324-326 Curves, statistical, 441-453 and hypokalemia, 223-224 Cushing's syndrome, 325 and metabolic alkalosis, 255, 258 Cyanide nitroprusside (CNP) test, 45, Corticosteroids, 4 191 therapy for MCNS, 153 diagnostic for cystinuria, 347 see also Steroids Cyclophosphamide, 178 Creatinine Cyclosporin (CsA), 373 in azotemia diagnosis, 270-271 contraindication, 376 Index 495

toxicity, 378 Diabetes mellitus, 11 Cystic disease, 2 hyperglycemia in, 226-228 multilocular, 95 maternal, 17 nephronophthisis-medullary, 2 and renal transplantation, 376 Cystine calculi, see Calculi, cystine Diagnosis Cystine crystals, see Crystals, urinary postnatal, 397-401 Cystinosis, 5, 16, 24 prenatal, 385-394, 396, 401 infantile nephropatic, 202 ethical questions, 397 and renal transplantation, 376 Dialysis see also Fanconi's syndrome in ARF, 270, 282 Cystinurias, 190-191, 347 for diabetic complications, 367 allelic forms, 187 in ESRD, 287 and aminoaciduria, 189 peritoneal, for infants, 373 Cystitis, 12, 14 Diastolic BP, 314-315 Cystography, radionuclide, 92, 99-101 Diet, patient history, 20 Cystoscopy, 330-331 Dinitrophenylhydrazine (DNP) tests, Cystourethrogram, voiding, see 45 VCUG (voiding Dipstick, urine cystourethrogram) color change, 165 Cytoplasm, stains, 128 for hematuria, 42, 134 for proteins, 145 significant readings, 146 D see also Reagent strips Database management, 408 Distal renal tubular acidosis (Type I) graphic display, and patient educa• bicarbonate reabsorption, 249 tion, 411 diagnostic procedures, 252-255 patient records, confidentiality, 409 gradient defect, 247 sequential data display, 410-411 secretory defect, 246 DDAVP, 218 voltage-dependent defect, 246-247 Deafness, nerve, see Nephritis, Diuresis, water, 72-74 hereditary Diuretics Delivery, preterm, 401 and hypokalemia, 224 Denver Developmental Screen, 303 and isovolemic hyponatremia, 213 Depression, neonatal, 18 see also Furosemide Dermatomyositis, childhood, 362-363 DMSA scan Desmopressin acetate, see DDAVP renal Developmental delay, 191-192 in hypertension, 320 and renal insufficiency, 373 postnatal, 336 see also Growth, retardation in UTI, 166 Diabetes DNA markers, 398-399 and ESRD, 367 DNA samples, handling of, computer• renal involvement, 366 ized,408 Diabetes insipidus (DI), 18, 21, 216- DNP, see Dinitrophenylhydrazine 218 Documentation of BP measurements, central, 11,217-218 315 etiology, 217 Doppler flow studies and hypernatremia, 216 in ARF, 277 nephrogenic, 5,11,36,217-218 in urological investigations, 330 psychogenic, 20 Doppler technique, 23 496 Index

Doppler ultrasound, 308 Electroimmunoassay (EIA), 68 Drug intake Electrolyte disturbance, 58-61, 207- maternal history, 17 231 patient history, 21 in ARF, 279-281 Drug tests, urine, 46 in CRF, 286, 298 Drugs and diabetes insipidus, 217 inARF Electrolytes and fluids, formulas and diagnostic, 279 conversions, 435-437 therapeutic, 282-283 Electrolytes in urine, 44 effect on electrolyte balance, 224- Electron microscopy, 118 225, 227-229 see also Microscopy effects on urinalysis, 40-41 Electrophoresis hematuria induced by, 141 cellulose acetate, 135 nephrotoxic, 21 fractionation of proteins, 67 DTPA scan, 166, 331 EMB (eosin-methylene blue) plate, see in hypertension, 320 MacConkey (EMB) plate with Lasix washout, 336 Encephalopathy, uremic, in CRF, see also Radiopharmaceuticals 302-303 Dysplasia, renal, 2, 12 End-stage renal disease (ESRD), 6, congenital, 288 287 prenatal diagnosis, 386 and diabetes, 367 segmental, 120 etiology, 372 Dyspnea, 19 incidence, 372 Dysuria, 2, 12 prevention, 395-405 and transplantation, 371 E volume overload, 301 Ears, preauricular pits, 18 and Wilms' tumor, 374 ECF, see Fluids, body, extracellular see also Uremia Echocardiography in hypertension, Endocarditis, bacterial, 140 322 renal involvement, 364 Echogenicity, renal, 93 subacute, 20 Edema, 14-15 Enuresis, 12, 20, 333-334 nephrotic, 15 diurnal,2 pitting, 27 Environmental factors and renal cal• EDTA registry, 287 culi, 341-342 Education, patient, and computer Enzymatic analysis of body fluids, 65 graphic display, 411 . Enzymes in amniocytes, 397 Education, public, and renal disease, Eosinophilia, 182 399, 404 in interstitial nephritis, 276 Ehrlich's reaction, 43 Epinephrine analog, radio labeled, 326 Electrocardiographs, manifestations of Epispadias, 19 hypo/hyperkalemia, 225, 230 Epithelial cells, microscopy, 48 Electrode analysis, in vitro Epstein's syndrome, see Nephrotic for blood gases, 61 syndrome for ionized calcium, 62 Erythropoiesis, 301 see also Ion selective electrode Escherichia coli, 161 analysis culture, 162 Electroencephalogram, contraindica• Ethical questions in prenatal diag• tion, 303 noses, 397 Index 497

EU (excretory urography), 86-89, 92- acid-base disorders, 241, 243, 93 245, 258 European Dialysis and Transplant As• assessment, 295 sociation Registry, see EDTA volume, 324 registry intravascular volume, 272-273 Euvolemia, maintenance in ARF, 279 assessment, 274 Excretion, 71 Fluids and electrolytes, formulas and fractional, 80-81 conversions, 435-437 in CRF, 290-291 Focal global obsolescence (FGO), solutes, 73 178 Extremities Focal glomerulosclerosis, see Glome• BP measurement in, 313 rulosclerosis, focal examination, physical, 27 Formulas and conversions, 433-439 perfusion of, 15 Fractional excretion, see Excretion, Eyes, examination, 23 fractional Fructose, hereditary intolerqnce, 202- F 203 Fabry's disease and renal transplanta• Frutosuria, 40 tion, 376 see also Carbohydrate metabolism Family history, renal and urinary disorders tract disease, 397 Fundoscopic examination, see Op• Fanconi Bickel syndrome, 202 thalmoscopic examination Fanconi's syndrome, 5, 23, 187,201- Furosemide, 13, 21, 28 204 and hyperca1ciuria, 344 and aminoaciduria, 189 in urine pH assessment, 251 diagnosis, 203, 204 etiology, 201-203 G generalized, 66 Galactosemia, 202-203 magnesuria in, 200 Galactosuria, 40 and proximal RTA, 246 see also Carbohydrate metabolism and renal transplantation, 376 disorders see also Lowe's syndrome Gastrointestinal, patient history, 19 Fatty acid, metabolism, 41 Gender predominance Fecal contamination of urine, 50 in glomerulonephritis, 178 Ferric chloride reactions, 45 in Lowe's syndrome, 203 Fetal surgery, 393, 401 in nephrotic syndrome. 181 Fibrodysplasia, medial, 112 Genetic disorders (renal). 16-17, 186- Fibroosteoclastic lesions, 297 187, 189, 199 Fistula Genetic screening, 398-399 arteriovenous Genitalia iatrogenic, 26 ambiguous, 18 in trarenal, 111 examination, physical, 27 tracheoesophageal, 19 patient history, 19-20 Fixatives, specimen, 118 Genitourinary anomalies, see Anoma• Fluids, body lies, genitourinary acid-base buffers, 235-237 Gesell developmental schedules, 295 balance, 58-61, 207-231 GFR (glomerular filtration rate), II, volume depletion, 211, 216, 219 2L 71 extracellular (ECF), 239 and acute renal failure. 269 498 Index

GFR (glomerular filtration rate) characteristics, 177, 179 (cont.) diagnosis, 361 in azotemia diagnosis, 270-271 and renal transplantation, 375 calculations, pediatric, 77-79 membranous (MGN), 131, 177 creatinine clearance, 46, 174 characteristics, 178 and CRF, 286, 290 and renal transplantation, 375 evaluation of, 291-292 mesangial proliferative, 177-178 and hypernatremia, 229 necrotizing, 121 and hyponatremia, 212-213 postinfectious acute (AGN), 15, 24, measurement techniques, 76-79, 97 131 in neonates, conceptional age, 79 renal involvement, 363 in nephrotic syndrome, 177 poststreptoccal, acute, 121, 139 prerenal impairment, 19 proliferative, 360 serum clearance, 175 rapidly progressive (RPGN) Giggle incontinence, see Incontinence evaluation, 364-365 Globulinemia, see Macroglobuline- treatment, 402 mia, Waldenstrom's recurrent, and renal transplanta• Globulins, urinary, 143 tion, 375 Glomerular adaptation, 289 steroids, resistance to, 146 Glomerular disease, 1, 3-4, 171-184 Glomerulopathies, biopsy findings, classification, 173 131 clinical evaluation, 172-174 Glomerulosclerosis, focal (FGS) diagnosis and intervention, 402 biopsy findings, 131 examination, physical, 173 characteristics, 176-178 history, 172 diagnosis, 139 lesions and renal transplantation, 375 evaluation, 126, 129 Glucose in secondary nephrotic syn• measurement, 63-64 drome, 152 in urine, 32, 38, 40-41 mass screening, 399-401 oxidase test, 40-41, 45 see also Alport's syndrome; IgA ne• phropathy; Proteinuria, Glucosuria, renal, 5, 40 glomerular characteristics, 186-188 Glomerular filtration rate, see GFR GN, see Glomerulonephritis (glomerular filtration rate) Goodpasture's syndrome, biopsy, 120 Glomerular morphology Gout, 52 diagnostic, 179 Growth,21-22 structural abnormality, 5 assessment, 292-294 Glomerulonephritis (GN) formulas and conversions, 434- acute, 180 435 and ARF, 179, 274 retardation, 18, 186 biopsy sampling, 119 see also Developmental delay crescentic, 121 Growth curves, 293, 445-452 and Henoch-Schonlein purpura, 359 H and ESRD, 287 Hartnup disease, 187, 189 hereditary, see Alport's syndrome characteristics, 191 infantile, 177 HCOJ anion, see Blood gas analysis membranoproliferative (MPGN), 3, Head circumference, 294, 303 121, 131, 139-140 growth curves, 453 Index 499

growth-rate, reduction, 374 Henderson-Hasselbach equation, Heart failure, 24 blood pH, 236 congestive, 19 Henle's loop, 72-73 Heavy metal toxicity, 204 Henoch-Schonlein purpura (HSP), 23, Height, 293-294 27 Hematological disorders, see Blood biopsy sampling, 119, 122 disorders findings, 131 Hematoma, perirenal, 124 diagnosis, 139 Hematuria, 3, 17, 134-142 and IgA nephropathy, 181 asymptomatic, 13, 28 and nephrotic syndrome, 359 benign, 3, 140, 180-181 renal involvement, 358-359 biopsy and renal transplantation, 376 complications, 124 with secondary nephrotic syn- indications, 121 drome, 180 clinical procedure, 136, 138, 141- Henoch-Schonlein purpura-like dis• 142 eases, 360 differential diagnosis, 139 Hepatitis B etiology, 136, 142 antigenemia, 360-361 drug induced, 141 and MGN, 178 extrarenal, 142 Hepatomegaly, 202, 219 renal, 42, III in ARF, 277 family history of, 172 Hereditary disorders, renal, see Ge- glomerular, 4, 134-142 netic disorders (renal) recurrent, 122 Histidinemia and aminoaciduria, 189 gross, 3, 14 Histidinuria, 189-190 painless, 174 Histocompatibility typing, 371 with proteinuria, 142, 149 Histological RBC's lesions, 139 dysmorphic, 139-140 stains, 128-129 normal, 140-141 History traumatic, 141 family, 14, 16-18 urological investigation, 334-335 patient, 15, 18-21 Hemihypertrophy, 18, 22, 110 perinatal, 17 see also Anomalies Hodgkins disease, see Lymphoma, Hemodialysis, see Dialysis malignant Hemoglobin, 42-43 Homocystinuria, 45, 190 Hemoglobinuria, 134 Hyaline cast, see Casts, urinary causes, 135 Hydramnios, 17-18 dipstick test, 42 see also Oligohydramnios; without hematuria, 42 Polyhydramnios Hemolysis, 276, 300-301 Hydration, 21-22 Hemolytic uremic syndrome (HUS), see also Fluids, body 123 Hydrocephalus, shunt, 20 and ARF, 270, 274 Hydrogen ion (H+) activity assessment, 365-366 acid-base disturbance, 244 and renal transplantation, 376 in CRF, 290 Hemorrhage distal secretion, 250 neonatal, 18 pH measurement, 234, 239-240 risk in biopsy, 123, 129 nomogram, 235 500 Index

Hydrogen measurement, see Blood Hypertension, 2, 4, 6, 22, 307-328 gas analysis age group classification, 313 Hydronephrosis, 2-3, 12, 16 in ARF, 270, 281 bilateral, prenatal diagnosis, 401 clinical . imaging, 94, 95 investigation, 317-321, 397-398 Hyperaldosteronism and hyperten• presentation, 316-317 sion,325 complications, 397-398 H ypercalci uria in CRF, 301 and calcium calculi, 344 essential, 15 idiopathic, 40, 181 etiology, 316-319 Hyperchloremic metabolic acidosis, management, 402 diagnostic procedure, 252-253 mass screening, 398 Hypercorticism, adrenal, 324 monitoring, computerized, 410 Hyperexcretion, renal, 186 in nephrotic syndrome, 177 Hyperglycemia, 63-64 physical examination, 315 effect on plasma Na, 210 in posttransplant patients, 380-381 Hyperglycinemia and aminoaciduria, prevalence, 316 189 renovascular, 111-112 Hyperkalemia, 58, 226-230 secondary, 15 in ARF, 279-280 severe, acute, 19 artifactual, 226 transient, 317 characteristics, 227 Hypertensive changes, grades, 24 clinical manifestations, 210 Hypertonic saline infusion test, 218 in Henoch-SchOnlein purpura, 359 Hypertriglyceridemia, 208 redistribution, 226-228 Hyperuricemia, 45 and renal tubular acidosis, 252-255 Hyperuricosuria and uric acid calculi, true, 227 346 etiology, 228-229 Hyperventilation, see Respiration rate Hyperkalemic renal tubular acidosis, Hypervolemia, 209 248, 252-255 and hypernatremia, 215-216 Hyperlipidemia, 208-209 characteristics, 219 Hypermagnesemia,63 and hypotonic hyponatremia, 212 Hypermethioninemia, 189 see also Euvolemia Hypernatremia,215-219 Hypoalbuminemia, 62, 67, 175 Hyperosmolality, 215 in nephrotic syndrome, 151 H yperoxal uria Hypocalcemia and calculi formation, 345-346 and vitamin D deficiency, 195 congenital, 345 see also Tetany, hypocalcemic Hyperparathyroidism Hypocapnia, 259, 262 in CRF, 291 chronic, 261-262 primary, 197 renal adaptation, 263 secondary, 297, 299 Hypocitraturia, 346 Hyperphosphatemia, 62-63 Hypocomplementemia,361 Hyperplasia, medial fibromuscular, Hypokalemia, 21, 220-225 320 artifactual, 220 Hyperprolinemia and aminoaciduria, clinical manifestations, 225 189 etiology, 222-223 Hyperproteinemia, treatment, 208- extrarenal, 221 209 Hypomagnesemia, 200 Index 501

Hyponatremia, 18 Immunofluorescence, diagnostic, 118, clinical features, 214 129 in Henoch-SchOnlein purpura, 359 Immunoglobulin disorder, 3 hypertonic, 208-210 see also IgA nephropathy hypotonic, 209-214 Immunoglobulins, measurement and with normal osmolality, 208 analysis, 68 Hypoparathyroidism, 197 Immunological conditioning, 371 Hypoperfusion, renal, 21 Immunopathological studies, 129 physiological response, 272 Immunoprecipitation, 68 Hypophosphatemia, 63 Imm unosuppressi ve and vitamin 0 deficiency, 195-200 agents, 371-372 regimen, sequential, 372 Hypophosphatemic rickets, see Incontinence Rickets child, urine collection, 159-160 Hypoplasia etiology, 333-334 pulmonary, 18 overflow, 12 renal, prenatal diagnosis, 386 urgency, 12 Hypoproteinemia, 15 Infection Hypospadias, 19, 27 ARF complication, 281 Hypotension, neonatal, 18 bacterial, 158 Hypotonia and renal insufficiency, iatrogenic, 33 373 patient history, 20 Hypovolemia pelvic, 33 characteristics, 209 in renal transplantation, 381 and hypernatremia, 215-216 and immunosuppression, 380- and hypotonic hyponatremia, 211 381 see also Euvolemia systemic, renal injury from, 363- 364 I vaginal, 33 Idiopathic nephrotic syndrome, see Infection-related calculi, see Struvite/ Nephrotic syndrome, primary carbonate-apatite calculi IgA nephropathy, 3, 14 Inferior vena cava, see IVC (inferior biopsy findings, 131 vena cava) Insulin in GFR studies, 75-76, 78 characteristics, 181-182 Intravenous pyelography, see IVP (in• diagnosis, 118, 139 travenous pyelogram) and renal transplantation, 376 Iodine-131 hippuran, see Imaging, 19 Radi opharmaceu ticals renal, 85-115 Ion-selective electrode analysis (ISE), digital vascular, 321 58-59,61 and hypertension, 320-322 Ionized calcium measurement, see urinary tract, 18 Calcium (Ca) measurement urological investigations, 85-115, Iron (Fe) deficiency, 300-301 330-332 Ischemia, renal, 273-274 see also Microscopy; Radionuclide Isosthenuria, 182 imaging; Ultrasonography (US) Isotopes in GFR studies, 77, 97 Iminoglycinuria, 187, 190 Isovolemia, 209 Immunodiffusion, radial (RID), 68 and hypernatremia, 215 Immunoelectrophoresis, 135 and hypotonic hyponatremia, 213- counter current (CIE), 68 214 502 Index

IYC (inferior vena cava) imaging, 96 L tumor in, 105 Laboratory studies IYP (intravenous pyelogram), 330- calculi, 350, 352-354 331 x-ray diffraction, 353 and hematuria, 335 in CRF, 295-296 in hypertension, 320 in glomerular disease, 173-175 in UTI, 166 in hemolytic uremic syndrome, 365-366 J in Henoch-Schonlein purpura, 359- Jaffe reaction, 65 360 Japanese Nephritis Study, 399 for nephrolithiasis, 349-352 Juxtaglomerular apparatus granules, normative data, 413-431 stains, 128 Laboratory technology Juxtaglomerular cells, renin, 322 changes in, 56 urine culture, 162 Laboratory values, reference intervals, K 413-431 Ketoacidosis Lactate and hyperkalemia, 227 measurement, 64 and hypokalemia, 223 pyruvate ratio, 64 Ketones, urinary, 41 Lactosuria, 40 analysis, 38, 41 see also Carbohydrate metabolism Kidney disorders abnormalities, early diagnosis, Lasix washout, renal scan, 331, 336 386 Lesh-Nyhan syndrome, 346 acid-base balance, 239 Lesions regulation, 240 renal parenchymal, and hyperten• histology, 362 sion, 397 infection, 158 renovascular, and hypertension, 397 injury, see Renal trauma see also Glomerular disease, le• medullary sponge, 95 sions; Renal lesions size, nomograms, 443-444 Leukocytes solitary, biopsy, 123, 129 polymorphonuclear, 49, 51 vascular supply, 123, 129 in urine, 38 visualization, 19, 85-115 dectection and analysis, 44 Kidney disease see also Pyuria early diagnosis and intervention, Liddle's- syndrome, 224 395-405 Lipodystrophy, partial, and glomeru- prevention, 401-404 lonephritis, 179 see also Hydronephrosis; Multicys• Liver, enlarged, see Hepatomegaly tic dysplasia; Polycystic kidney Lloyd's reagent, 65 disease Lowe's syndrome, 23 Klebsiella, infection and calculi, 347 gender predominance, 203 Klebsiella-Enterobacter group, 161- oculocerebrorenal, 202 162 genetic screening, 398-399 Korotkoff sounds, 313-314 Luminal membrane (renal), permea• KUB abdominal film, see X-ray, kid• bility, 247 neys, ureters and bladder Lungs, physical examination, 24 Kyphosis, 20 Lupus nephritis, see SLE Index 503

Lymphoma, malignant, renal involve• Mesangial matrix, stains, 128 ment, 367 Metabolic acidosis, see Acidosis, Lysosomal enzyme, deficiency, 45 metabolic Lysozyme, urinary, 144 Metabolic alkalosis, see Alkalosis, metabolic M Metabolic homeostasis, 57 MacConkey (EM B) plate in urine cul• loss of, in CRF, 286-287, 295 ture, 162-163 Metabolism Macroglobulinemia, Walden strom's, in CRF, laboratory assessment, 208 295-303 Magnesium (Mg) fatty acid, see Fatty acid deficiency, 200-201 metabolism measurement, 63 Metabolism disorders, 44-46, 64 Magnesuria, drug-induced, 200-201 hereditary, and renal transplanta- Magnetic resonance imaging, see MRI tion, 375-376 (magnetic resonance imaging) magnesium, 200-201 Malaria, renal involvement, 364 and malignant lymphoma, 367-368 Malignancy, preexisting, and renal tests, 45 transplant, 374 vitamin D, 192, 198 Manometer, mercury-gravity, 308 Metaiodo-benzylguanidine (131 1_ Maple syrup urine disease, 45 MIBG),326 and aminoaciduria, 189 MGN, see Glomerulonephritis, Markers membranous DNA, 398-399 Microalbuminuria, monitoring, in di• GFR,75 abetes, 366 insulin, 76 Microbiology of UTI, 161-165 isotopes, 77 Microcephaly and renal insufficiency, Masses, abdominal, 3, 26 373 imaging, 104-105 Microchemistry, 56 in neonates, 16 interferences, 57 palpation, 25-26 Microscopy, 46-50 pelvic, 26 electron, 118 suprapubic, 16 phase contrast, 136, 174 urological investigation, 337 Minera1corticoids, see Corti co ids Masses, renal, imaging, 104, 109-110 Mortality rate in acute renal failure, Masses, retroperitoneal, 338 270, 280 MCNS (minimal change nephrotic MRI (magnetic resonance imaging), syndrome), 120 86, 103-108 characteristics, I 76-177 in urological investigations, 330 glomerular proteinuria, 152 Mucopolysaccaridoses (MPS), 45 diagnostic procedure, 153 Mucoproteins steroids, responsive to, 146 Tamm-Horsfall, 50, 143 see also Nephrotic syndrome see also Proteinuria, tubular Meatal stenosis, see Bladder outlet Multicystic dysplasia, 3, 16 obstruction fetal diagnosis, 389 Meningomyelocele, 20, 26 imaging, 94 Mental status, of transplant candi• Murmur, hemic, 24 dates, 373 Musculature, abdominal, absent or premorbid, 373 lax, 18,24-25 504 Index

Myelodysplasia, 12 see also IgA nephropathy; Sickle Myelography, 107 cell disease, nephropathy Myoglobinuria, 42-43, 136 Nephrosis, congenital Myopathy in renal bone disease, 297- and hypertension, 317 298 prenatal diagnosis, 386 Nephrotic syndrome, 4, 15 N allergies misdiagnosed as, 15 Necrosis biopsy, diagnostic, 178 medullary, 317 biopsy indications, 120-121, 154 renal cortical, 31 7 findings, 131 congenital (CNS), 179-180 Neonate, 17-18 infantile (INS), 179-180 blood pressure in, 308-309, 312 primary, 151-154 Nephritic syndrome, 121 characteristics, 176-178 Nephritis, 14 and proteinuria, 151 embolic, biopsy sampling, 119 see also MCNS hereditary, 121, 172 recurrent, and graft failure, 375-376 interstitial, 21, 51 secondary, 152, 180 in ARF, 276 Neuroblastoma pyelonephritis/interstitial, in ESRD, abdominal, 3, 16 287-288 MRI imaging, 105, 108 shunt, see Shunt nephritis see also Wilms' tumor tubulointerstitial (TIN), see Tubu• and hypertension, 326 lointerstitial nephritis (TIN) urological investigation, 337-338 see also Glomerulonephritis; Neurofibroma, 23 Pyelonephritis Neurogenic bladder, see Bladder, Nephrocalcinosis, 123 neurogemc Nephrogenic diabetes syndrome, 187 Neurological disorders Nephrolithiasis in CRF, 302-303 clinical evaluation, 349-352 and renal insufficiency, 373 see also Calculi, renal Neurological examination, 28 Nephrologist, pediatric, 7-8 patient history, 20 referral, 142 of transplant candidates, 373 Nephrology Neuropathy, uremic, 302 calculation, formulas and conver• Nicotinamide deficiency, 191 sions, 433-439 Nipples, supernumerary, 18 clinical, computer use, 407-412 Nitrite, urinary, 38, 43 Nephroma, mesoblastic, 338 in UTI, 165-166 Nephromegaly, benign ipsilateral, 110 Nitrogen, alpha-amino excretion in Nephron segments, function neonates, 143 loss of, 289-290 Nitrosonaphthol (NP) test, 45 testing, 71-74 Nocturia, cessation of, 290 Nephronophthisis-medullary cystic Nomograms, 235-238, 243 disease, 2 BP in children, 309-311 juvenile, 120 see also Appendix III, 441-453 Nephropathy Non-invasive imaging, 107 biopsy findings, 131 Normative data, pediatric, 413-431, diabetic, 366, 403 441-453 membranous, 118 see also Reference intervals Index 505

North American Pediatric Renal Osteomalacia, 297 Transplant Cooperative Study aluminum, 299-300 (NAPRTCS), 371-372 anticonvulsant, 195 Nutrition calcium-deficient, 195 assessment, in CRF, 297 Overflow incontinence, see and calcium calculi, 344 Incontinence Overload proteinuria, see Proteinuria, o overload Obesity, marked, and biopsy, 123, Oxalate, urinary increase, see 129 Hyperoxaluria Obstruction, urinary tract, 2, 12, 49, Oxalosis, 345-346 95, 98, 166 and combined hepatic/renal trans• in ARF, 273-274 plantation, 377 chromosomal aberration, fetal diag- and renal transplantation, 376 nosis, 389 Oxygen measurement, see Blood gas congenital, 288 analysis hematuria in, 140 Oxytocin infusion, maternal, effect on and hypertension, 317 neonate, 18 and nephritis, tubulointerstitial, 182 prenatal diagnosis, 386 P renal, 17 PAH, see Para-aminohippurate urological investigation, 337 Pain, 3, 13-14 see also Bladder outlet obstruction abdominal, 2, 14 Oculocerebrorenal syndrome, see bone, 298 Lowe's syndrome colicky, 14 Oligohydramnios Hank, 13-14 and bilateral renal agenesis, 40 I loin, 2, 182 prenatal diagnosis, 386 suprapubic, 2, 14, 27 Oligomeganephronia, 120 Palsy, cranial nerve, 28 Oliguria, 11, 51 Papanicolaou stain, see Stains, and ARF, 272-273 microscopy prolonged, 4 Para-aminohippurate (PAH), 79-80 Opthalmoscopic examination, 295 Paradoxical incontinence, see Orthopedic complications of uremia, Incontinence 297-300 Parathyroid hormone (PTH), 192, Orthostatic proteinuria, see Protein• 195-200 uria, orthostatic in CRF, 295-297 Oscillometry, automatic, 308 stimulation, 291 Osmolality, 59-60 Parenchyma, renal, 15 plasma, 208, 215 and ESRD, 289 in radiopaque materials, 87 inflammation, 13-14 urine, 37 Parenchymal disease, 273 Osmolarity etiology, 274 plasma, 73 proteinuria, 148 urine, 72 Pathophysiology of calculi, 353-354 Osteitis fibrosa, 297 Patient care flowchart, 409 Osteodystrophy, renal, 27, 196-197, Patient compliance/noncompliance 290-291 and posttransplant therapy, assessment of, in CRF, 297-298 374 506 Index pC02' 236, 240 Placenta, examination of, 17 in metabolic alkalosis, 255 Planes, oblique, imaging, 105-107 in mixed acid-base disorders, 263- Plasma flow, renal, see RPF (renal 264 plasma flow) in respiratory acidosis, 258-259 Plasma renin activity (PRA), 322-324 in respiratory alkalosis, 261-262 Plasma specimens see also Blood gas analysis; Carbon analysis, 58-59 dioxide, in blood collection and handling, 56-57 Pellagra symptoms, 191 Pleura, effusion, 24 Penicillamine, nephrotoxicity, 362 p02' see Blood gas analysis Penicillins, semisynthetic, 21 Poikilocytosis, 301 Polyarteritis nodosa Pentosuria, 40 biopsy sampling, 119 see also Carbohydrate metabolism diagnosis, 360 disorders Polycystic kidney disease, 3, 15-16 Pericarditis, uremic, in CRF, 301-302 adult (APKD), 14, 94 pH, blood, 60-61 chromosome mutation, 387-388, buffers, 235-236 397 effect on plasma K, 226 and hypertension, 317 in mixed acid-base disorders, 263- infantile, 94 264 prenatal diagnosis, 390 physiology, 234-235 Polydipsia, 11, 20, 36 renal regulation, 240 psychogenic, 12, 218 respiratory regulation, 239-240 Polyfructosan, in GFR studies, 75 see also Blood gas analysis Polyhydraminos, 18 pH, urine, 32, 37-38 Polyuria, 2, 11, 20 diagnostic indications, 39 psychogenic, 12 acidosis, 252-255 Porphobilinogen screening, see Wat•

effects of NaHC03 249 son-Schwartz test hydrogen ion assessment, 250-251 Porphyrins

pC02 assessment, 251-252 metabolism, 46 Phenylketonuria (PKU), 45 urinalysis, 33 and aminoaciduria, 189 Postural proteinuria, see Proteinuria, Pheochromocytoma, 326 orthostatic Phosphate Potassium (K) fractional excretion, 81 analysis for, 58-59 balance, 219-230 in CRF, 290-291 deficiency, and alkalosis, 256 tubular reabsorption of (TRP), 63 depletion, 213 Phosphaturia, 5 fractional excretion, 81 amorphous, 52 in CRF, 290 characteristics, 198-200 in urine, 44 Phosphomolybdate reaction, 62 Potter's syndrome, 21 Phosphorus (P) measurement, 62-63 Prednisone Photometry, flame, 44, 58-59 diagnostic, 154 Photon absorptiometry, 300 and renal transplants, 372-373 Physician, responsibility of, 403 Pregnancy, termination of, 392, 401 Pits, preauricular, 18 Prenatal diagnosis, 396-397, 401 Pitting edema, see Edema, pitting renal and urinary tract abnormali- PKU, see Phenylketonuria ties, 385-394 Index 507

Prerenal failure, see Ischemia, renal Psychological impact of CRF, 295 Preservatives Psychosocial plasma specimens, 57 factors in renal transplantation, 374 urine specimens, 32-33 patient history, 20 see also Anticoagulants Pubertal stage, 294 Prostaglandins, 21 Pulse, femoral, 24 Proteins Purine analysis, urinary, 38-39 and dietary protein, 346 diagnostic indications, 39 metabolism disorder, 45 methods, 40, 46, 66-69 Purpura, 23 dietary restriction, in diabetes, 367 see also Henoch-Schonlein purpura excretion, age-dependent norms, Pus cells, see Leukocytes, 143 polymorphonuclear selectivity index, 146 Pyelogram, intravenous, see IVP serum, see Serum, protein Pyelonephritis, 51 Proteinuria, 3-4, 18,39,66, 142-154 acute, 3, 14, 158 asymptomatic, 13, 149 biopsy, 123 clinical procedures, 149-151 chronic, 2, 12, 158 clinically significant, 144, 148 scars, 20 detection, 67, 145-146 see also Scars, renal etiologies, 146-148 Pyloric stenosis and hyponatremia, glomerular, 68-69, 144, 147-148 211-212 with hematuria, 42, 142, 149 Pyrimidine metabolism disorder, 45 hemodynamic, 147 Pyruvate measurement, 64 with hypoalbuminemia, 175 Pyuria, 4 intermittent, 146-147 diagnostic indications, 49 mild, 175 see also Leukocytes, orthostatic, 3, 39,121, 147, 176 polymorphonuclear diagnosis, 148-149, 151 overload, 145, 147 R persistent, 148 Racial predominance tubular, 69, 144-145, 147 in glomerulonephritis, 179 Proteus renal calculi, 341 infection and calculi, 347 Radiation dosage, 89, 92, 96, 100 in UTI, 161 Radiographic dyes, crystals of, see culture, 163 Crystals, urinary Protoporphyrin, see Porphyrins Radiographs, scout, urinary tract, 87, Proximal tubular acidosis (Type, 2), 89 246 Radiological procedures, 85-115 bicarbonate reabsorption, 249 in CRF, 296-299 diagnosis, 252, 254 preparation, 86 "Prune belly" syndrome in UTI, 166-167 prenatal diagnosis, 386 Radionuc1ide imaging, 85 see also Musculature, abdominal in ARF, 277 Pseudohyponatremia, 208 see also Scintigraphy Pseudohypoparathyroidism, 197 Radiopaque contrast materials, 100 Pseudomonas iodinated (organic), 86-87 infection and calculi, 347 toxicity, 103, 108 in UTI, culture, 163 see also Radiopharmaceuticals 508 Index

Radiopharmaceuticals, 96-97, 326 nonfunction syndrome, see Potter's Rashes, 23 syndrome RBC, see Red blood cells obstruction, see Obstruction, uri• Reabsorption nary tract creatinine, 75-76 osteodystrophy, see Osteodystro• fractional, 81 phy, renal Reagent strips plasma flow (RPF), see RPF (renal characteristics (table), 38 plasma flow) in chemical analysis, 37 scani.ng, see Scars, renal for proteins, 39 transplantation, see Transplanta• for specific gravity of urine, 36 tion, renal for sugar, 41 trauma, 3, 14,51,335 Rectum, examination, 28 imaging, 103, III Red blood cells (RBC), urinary, 27, tubular acidosis (RTA), see Tubular 38 disease (renal), acidosis analysis, 42 tumors, see Tumors, renal casts Renal abnormalities in ARF, 276 conditions and syndromes associ• see also Casts, urinary ated with, 455-487 in CRF, 300-301 prenatal diagnosis, 385-394 dysmorphic, 49, 137, 139-140 Renal disease microscopy, 48-49 asymptomatic, 2, 10, 395 morphology, 136-137, 174 cystic, 2, 12 imaging, 94 normal, 140-141 end stage (ESRD), 177 Reducing substance test, urine, see see also End-stage renal disease Urine, reducing substance (ESRD) test examination, physical, 21-28 Reference intervals, pediatric, 56, genetic, 16-1 7 413-431 glomerular/nonglomerular, differen- Reflux, vesicoureteral, 90, 99, 101, tial diagnosis, I 71 157,334 history, 16-21 bilateral, 91 management limitations, 404 Reflux nephropathy, 288 metabolic homeostasis, 57 Refractometer, TS, 36 primary, and renal transplantation, calibration, 34 375 Rejection of renal grafts, 378-380 and proteinuria, 149 Renal signs and symptoms, 1-2, 14-16, agenesis, see Agenesis, renal 19, 149 artery stenosis, III urological workup, 329-339 clearance, II, 46 see also Kidney disease concentrating ability, see Concen- Renal failure, 5, 66 trating ability, renal delay of, 402-403 cortical necrosis, 119 differential diagnosis, 122 cortical structure, imaging, 96-97 indices, formulas and conversions, dysplasia, see Dysplasia, renal 438 hypoperfusion, see Hypoperfusion, see also Acute renal failure (ARF); renal Chronic renal failure (CRF) lesions, nondiagnostic, 119-120 Renal function masses, see Masses, renal and body surface area, 76, 80, 82 Index 509

decreased, 2, 4-5 RTA (renal tubular acidoses), see Tu• deterioration in CRF bular disease (renal), acidosis consequences, 291 laboratory assessment, 295-303 S and GFR, 78-79 Sampling, biopsy, see Specimens, imaging, 93, 96-97 biopsy measurement, 81 Sarcosine mia, 190 residual, 286-287 Scars, renal, 157-158 assessment of, 291-292 and hypertension, 317, 320 and SUN (serum urea nitrogen), 81 in UTI, 164 Renal insufficiency, 17 Schistosoma hematobium, hematuria in, 141 chronic, 286 Scintigraphy, radionuclide, 93, 96-99 after ARF, 270 and hypertension, 320 family history of, 172 Scleroderma, 362-363 Renograms Sclerosis, focal diuretic, 97, 99 biopsy sampling, 119 J3II-hippuran, 98 diagnosis, 118 Renovascular disease, 15 Scoliosis, 20 and hypertension, 316-317 Screening, mass, 404 Resorption, subperiosteal, 299 glomerular disease, 399-401 Respiration rate, 23 procedures, 400-401 Respiratory acidosis, 241 urine, 400 compensation, 242 Sedation diagnosis, 258-261 for biopsy, 125 Respiratory alkalosis, 241 for radiological procedures, 86, 105, characteristics, 261-262 108 diagnosis, 262 Sediment, urinary, microscopic exam- etiology, 263 ination, 46-50 renal compensation, 242, 261 Seizures and renal insufficiency, 373 Respiratory system, acid-base bal• Sensorineural loss, 28 ance, regulation, 239-240 Serum Respiratory tract, patient history, 19 albumin, 4 Retardation, mental, in transplant analysis, 58-59 candidates, 373 in CRF, 295-296 Rhabdomyolysis, 276 in UTI, 164 osmolality, 58 Rickets, 5 potassium (K), see Hyperkalemia; neonatal, 195 Hypokalemia nutritional, 192-195 protein analysis, 66 treatment, 193-194 fractionation by electrophoresis, vitamin D dependent, 196 67-68 vitamin D resistant, 198-200 urea nitrogen, see SUN (serum urea RID, see immunodiffusion, radial nitrogen) Risk factors in fetal diagnosis, 387 Serum complement Roentgenograms, skeletal depressed, 175, 179 in CRF, 298 see also Complement proteins see also X-ray Sex predominance RPF (renal plasma flow), 71, 79-80 citrate excretion, 346 measurement, 80 renal calculi, 341 510 Index

Shock, neonatal, 18 sufficiency of, 119 Shunt nephritis and glomerulonephri• collection and handling tis, 20, 139, 179 in nephrolithiasis, 350 SIADH,20-21 plasma, 56-57 and hypotonic hyponatremia, 213- urine, 32-33, 57 214 contamination, 159-160 Sickle cell disease, 123 Spectrophotometric measurement, 64 hematuria in, 141 Sphygmomanometry, 308 and hyperkalemia, 230 Spinal dysraphism, 334 and MGN, 178 Splenorenal shunt, imaging, 112 nephropathy, 2 SPSS (Statistical Package for the So- and renal transplantation, 376 cial Sciences), computer pro• Sigaard-Anderson nomogram, 236- gram, 408 237 Stains, microscopy, 49-50, 128-129 Skin, examination, 23 Standard deviation scores (SDS), Skinfold thickness, 294 growth, 293-294 SLE (systemic lupus erythematosis), Staphylococcus 27, 51 culture, 163 biopsy sampling, 119, 123, 362 and glomerulonephritis, 179 findings, 131 in UTI, 161 diagnosis, 139, 360 Stenosis, renal artery, 15, III kidney histology, 362 etiology, 321 and MGN, 178 Steroids analysis for, Urinalysis, steroids and renal disease, 361-363 see response to, 177-178 and renal transplantation, 376 Stone analysis, see Laboratory stud• with secondary nephrotic syn- ies, calculi drome, 180 Stones, see Calculi Socioeconomic factors, renal calculi, Streptococcal infection 341 and MGN, 178 Sodium (Na) renal involvement, 363 dietary, and CRF, 289 Stress incontinence, see Incontinence fractional excretion (FEna) Struvite calculi, 343 in ARF, 276 Struvite!carbonate-apatite calculi, 347 in oliguria, 273-274 Sugar, screening tests, 40-41 nephron reabsorption, 72-73 Sulfonamides, crystals of, see urinary plasma concentration, 237-238 crystals disturbance, 207-219 SUN (serum urea nitrogen), 81 urinary, 44 Suprapubic urine, see Cultures, urine, analysis for, 58-59 specimen collection fractional excretion, 81 Syphilis Sodium bicarbonate (NaHC03), infu• and MGN, 178 sion, 248-249 renal involvement, 364 Sonogram, see Ultrasonography (US) Systemic disease, 2 Specific gravity (sp gr) renal involvement, 8, 357-369 measurement, 36 Systemic disorders, renal involve• urine, 2, 35 ment, 455-487 diagnostic indications, 36 Systemic lupus erythematosis, see Specimens SLE (systemic lupus biopsy, 118 erythematosis) Index 511

Systolic BP, 314-315 Transplantation, renal, 371-383 complications, 378-382 T criteria for acceptability, 372 Tachycardia, 23 donor workup, 377-379 Tachypnea, 19 grafts Talc, urinary, "maltese cross", 47 failure, 376 Tamm-Horsfall protein, see Mucopro- rejection, 375, 378-380 tein, Tamm-Horsfall and MGN, 178 Task Force on Blood Pressure Con• multiple, 372 trol in Children, nomograms, recipient workup, 378-379 Triple phosphate crystals, Crys• 309-311 see tals, urinary TBK (total body potassium), see Po• TRP, see Phosphate, tubular reab• tassium (K), balance sorption of Technetium-99m diethylene triamine TS (total solid) refractometer, see Re• pentaacetic acid, see DTPA fractometer, TS Technetium-99m dimercaptosuccinic Tubular acid (99m Tc-DMSA), see adaptation, 289 DMSA basement membrane, see Basement Testes, undescended, 18, 27 membrane Tetany, hypocalcemic, 192 cells, microscopy, 48-50 see also Rickets function monitoring, 69 Thin-layer chromatography (TLC), fractional excretion, 81 see Chromatography necrosis, II, 18 Thrive, failure to, 10 acute (ATN), 224 see also Growth retardation Tubular disease (renal), I, 5, 27 Throat, physical examination, 24 acidosis (RTA), 5,18-19,187,222- Thrombocytopenia, 366 223, 245-255 Thrombosis diagnostics, 248-249, 252-255 umbilical cord, 15 etiology, 247 renal artery, and hypertension, casts as indicators, 50 316-317 clinical study of, 185-206 renal vein, 3, II, 16, 51 evaluation, 188 imaging, 112 proteinuria, 69, 144 and MGN, 179 Tubular dysfunction, recurrent, after Titration ARF,270 bicarbonate, 248 Tubular function, assessment, 278 coulometricamperometric, 59 Tubules, renal TLC, see Chromatography acidosis, 245-248 Tomography, renal, 87 see also Henle's loop Tonicity, see Fluid balance Tubulointerstitial nephritis (TIN), Tonsils, examination, 24 144, 182 Tracheoesophageal fistulae, see Fis- biopsy sampling, 119 tula, tracheoesophageal causes, 183 Traction, orthopedic, 20 Tumor lysis, rapid, in lymphoma, 368 Transcutaneous monitoring, blood Tumors gases, 61 renal, 123 Transplant donors (potential), workup hematuria in, 141 of, 377-378 imaging, 96, 109-110 512 Index

Tumors, renal (cont.) Uric acid, 33 intraspinal extension, 107 crystals, 46, 52 see also Wilms' tumor measurement, 65 urothelial, 331 and tumor lysis, 368 vascular, imaging, 110, 112 Uric acid/urate calculi, 343, 346 Turbidometric tests for proteinuria, Urinalysis, 2, 10, 22, 31-54 145 abnormal, I, 3, 13 accuracy, 34 Tyrosine crystals, see Crystals, urinary in ARF, 276 Tyrosinemia chemical, 37, 59-70 and aminoaciduria, 189 common procedures, 33 and Fanconi's syndrome, 202-203 in CRF, 296 Tyrosinosis, 45, 202 diagnostic, 398 hematuria, 149 U RBC morphology, 3 Ultrasonography (US), 26, 85 microscopic, 329 and fetal diagnosis, 385-388 porphyrins, 33 indications, 93-96 proteins, 149 renal, 2-3, 92, 101 sediments, microscopic, 46-50 in ARF, 276-277 steroids, 33 in biopsy, 124, 126 in UTI, 161 in CRF, 296 Urinary frequency, 2, 11-12 in nephrolithiasis, 349 hesitancy, 2 in urological investigations, 330 potassium (K), 59 fetal, 336 retention, 2, 12, 27 in UTI, 166 sodium (Na), 59, 211-214 Umbilical artery, single, 17-18 stream, 12 Umbilical, cord, 15, 17 urgency, 2, 12 Up/Ucr, see Urine protein/creatinine see also Calculi, urinary; Casts, ratio urinary Urachus, patent, 24 Urinary tract Urates, 46, 52 abnormalities Urea early diagnosis, 396 converted to ammonia, 66 prenatal diagnosis, 385-394 measurement, 33, 64 congenital abnormalities, 2, 18, 332 nitrogen, serum, see SUN (serum disease, urological workup, 329-339 urea nitrogen) imaging, 85-115, 166, 398 Uremia, 5, 19 infection, see UTI in ARF, 281 obstruction, see Obstruction, uri• effect on mental functioning, 373 nary tract trauma, 335 see also End-stage renal disease Urine, 31-54 (ESRD) appearance, 13,34-35 Ureter, ectopic, 12, 334 pigmentation, 134-135, 165 Urethra, dilation, 331 blood cells in, see Red blood cells Urethral stricture, see Bladder, outlet (RBC); Hematuria obstruction calcium/creatinine ratio, 175 Urethral valves, posterior, 90, 274 concentration, 273, 276 prenatal diagnosis, 390 precipitation, 67 Urethritis, 12 protein Index 513

selectivity, 175, 177 urological investigations, 332 see also Proteins, analysis; Proteinuria V protein/creatinine ratio (Up/Ucr), Vanillylmandelic acid (VMA), urinal• 146 ysis, 33 reducing substances test, 40-41, Vascular permeability, increased, 15 44-45 Vasculitis, necrotizing sediment, in ARF, 276 biopsy, 120 sp gr, see Specific gravity, urine Henoch-Schonlein-like purpura, 360 sugars in, 40-41 VCUG (voiding cystourethrography), volume, 76 2-3, 85, 89-93 and ARF, 272-273 in hypertension, 322 decrease, 172 in urological investigations, 330, timed, 33 332 Urine specimens, 329-330 postnatal, 336-337 collection and preservation, 32-33 in UTI, 166 culture, 332 Vena cava, inferior, see IVC Venography, renal, 112 in nephrolithiasis, 350 Ventricular septal defect, 24 contaminated, 159, 165 Vesicoureteral reflux, Reflux, Urinometer, 36 see vesicoureteral calibration, 34 Vincristine, 21 Urobilinogen in urine, 32, 38 Visualizing, see Imaging dectection and analysis, 43 Vital signs, 22-23 Urodynamics, 331-332 Vitamin C, dietary intake, 345 Urography, excretory, see EU (excre• Vitamin D tory urography) deficiency, 297 Urolithiasis, 13-14, 19 metabolism, 192, 198 see also Calculi, urinary therapy, 299 Urological investigations, 329-339 see also Rickets perinatal, 336 Voiding, 27 Uropathy, obstructive, see Obstruc- pattern, 2, 10-11 tion, urinary tract Uroporphyrin, see Porphyrins W US, see Ultrasonography (US) Waldenstrom's macroglobulinemia, UTI (urinary tract infection), 1, 4, see Macroglobulinemia, 157-169 Waldenstrom's chronic, 18, 158 Water balance, see Fluid balance diagnosis, 157, 166,267 Water deprivation test, 217-218 clinical procedures, 165-166 Watson-Schwartz test, 46 epidemiology, 158 Wegener's granulomatosis and ESRD, 396 biopsy sampling, 119 hematuria in, 140 diagnosis, 360-361 imaging, 90-93 Weight for height ratio intervention, 402 as nutritional index, 293 recurrent, 20, 166 see also Growth and renal scars, 396 Whitaker test, 331 signs and symptoms, 2, 12 White blood cells, microscopy, 48-49 in infants, 19, 22, 158-159 Wilms' tumor, 3, 16, 18-19, 23 site localization, 163-165 CT imaging, 101-102, 105 514 Index

Wilms' tumor (cont.) X-ray genetic screening, 398-399 diffraction studies, calculi, 353 hepatic metastases, 105 kidneys, ureters and bladder MRI, 104-108 (KUB), in nephrolithiasis, 349 renal artiography, 110 X-ray computed tomography, see CT and renal transplantation, 374 (computed tomography) urological investigation, 337- 338 Y see also Tumors, renal Yeast, urinary, 48, 50 Wilson's disease, 202-203 x X chromosome, and Alport's syn• drome, 399