DOCSLIB.ORG

Tubulointerstitial Disease

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Tubulointerstitial Disease 11.4 Tubulointerstitial Disease involved in the coordinated transport of salt in the thick ascending Epithelial cell of the thick ascending limb of the loop of Henle. In this nephron segment, sodium chloride limb of the loop of Henle is transported into the cell together with potassium by the bumet- Lumen Blood amide-inhibitible sodium-potassium-2 chloride cotransporter (NKCC2). Recycling of potassium back to the lumen through an + apical potassium channel (ROMK) allows an adequate supply of Na ClC-Kb NKCC2 2Cl– potassium for optimal activity of the NKCC2. Chloride exits the K+ basolateral side of the cell through a voltage-gated chloride channel (ClC-Kb), and sodium is expelled separately by the sodium-potassi- + um adenosine triphosphatase cotransporter. Inactivating mutations ROMK K+ Na ATP in NKCC2, ROMK, and ClC-Kb have been identified in patients K+ with Bartter syndrome [6–8]. Approximately 20% of filtered calcium is reabsorbed in the thick ascending limb, and inactivation of any of these three trans- port proteins can lead to hypercalciuria. Nephrocalcinosis occurs in almost all patients with mutations in NKCC2 or ROMK, but it FIGURE 11-5 is less common in patients with a mutation in the basolateral chlo- Bartter syndrome. Bartter syndrome is a hereditary renal functional ride channel ClC-Kb, even though patients with chloride-channel disorder characterized by hypokalemic metabolic alkalosis, renal mutations currently make up the largest reported group [8]. This salt wasting with normal or low blood pressure, polyuria, and interesting observation is unexplained at present. In addition, a sig- hypercalciuria. Other features include juxtaglomerular hyperplasia, nificant number of patients with Bartter syndrome have been found secondary hyperreninemia and hyperaldosteronism, and excessive to have normal coding sequences for all three of these genes, indi- urinary excretion of prostaglandin E. It often has been noted that cating that mutations in other gene(s) may explain Bartter patients with Bartter syndrome appear as if they were chronically syndrome in some patients. exposed to loop diuretics; in fact, the major differential diagnosis is In contrast, the Gitelman variant of Bartter syndrome is associated with diuretic abuse. Bartter syndrome often presents with growth with hypocalciuria. In this respect these patients resemble people retardation in children, and nephrocalcinosis is common. Bartter treated with thiazide diuretics. In fact, mutations have been found syndrome is inherited as an autosomal recessive trait. in the thiazide-sensitive sodium chloride cotransporter of the distal The speculation that this syndrome could be explained by tubule [9]. Hypomagnesemia is common and often severe, and impaired reabsorption in the loop of Henle has now been confirmed patients with Gitelman syndrome do not develop nephrocalcinosis. by molecular studies. R.P. Lifton’s group [6–8] identified loss-of- ATP—adenosine triphosphate. (From Simon and coworkers [8]; function mutations in three genes encoding different proteins, each with permission.) FIGURE 11-7 Noncontrast abdominal radiograph in a 24-year-old man with X-linked nephrolithiasis (Dent’s disease). The patient had recurrent calcium nephrolithiasis beginning in child- hood and developed end-stage renal disease requiring dialysis at 40 years of age. Extensive medullary calcinosis is evident. FIGURE 11-6 Nephrocalcinosis. Ultrasound image of right kidney in a patient with primary hyperparathyroidism. Echogenicity of the renal cortex is comparable to that of the adjacent liver. The dense nephrocalcinosis is entirely medullary. (Courtesy of Robert Botash, MD.) Metabolic Causes of Tubulointerstitial Disease 11.5 X-LINKED NEPHROLITHIASIS (DENT’S DISEASE) Males who are affected Females who are carriers Low molecular weight proteinuria Extreme Absent, mild, or moderate Other defects in proximal tubular function Variable Uncommon Hypercalciuria Occurs early in most Present in half Nephrocalcinosis Nearly all have it Rare Calcium stones Common but not universal Uncommon Renal failure Common but not universal Rare Rickets Present in some Not reported FIGURE 11-8 Syndromes of X-linked nephrolithiasis have been Rickets occurs early in childhood in some patients but reported under various names, including Dent’s disease is absent in most patients with X-linked nephrolithiasis in the United Kingdom, X-linked recessive hypophos- (Dent’s disease). In a few families, all affected males have phatemic rickets in Italy and France, and a syndrome of had rickets. In other families, rickets is present in only low molecular weight (LMW) proteinuria with hyper- one of several males sharing the same mutation. At pre- calciuria and nephrocalcinosis in Japanese schoolchild- sent, the variability of this feature and other features of ren. Mutations in a gene encoding a voltage-gated chlo- the disease is unexplained and may reflect dietary or envi- ride channel (ClC-5) are present in all of these syn- ronmental factors or the participation of other genes in dromes, establishing that they represent variants of one the expression of the phenotype. disease [10]. The disease occurs most often in boys, Females who are carriers often have mild to moder- with microscopic hematuria, proteinuria, and hypercal- ate LMW proteinuria. This abnormality can be used ciuria. Many but not all have recurrent nephrolithiasis clinically as a screening test, but LMW protein excre- from an early age. Affected males excrete extremely tion will not be abnormal in all heterozygous females. ␤ large quantities of LMW proteins, particularly 2- Approximately half of women who are carriers have microglobulin and retinol-binding protein. Other defects hypercalciuria, but other biochemical abnormalities are of proximal tubular function, including hypophos- rare. Although symptomatic nephrolithiasis and even phatemia, aminoaciduria, glycosuria, or hypokalemia, renal insufficiency have been reported in female carri- occur variably and often intermittently. Many affected ers, they are very uncommon. males have mild to moderate polyuria and nocturia, and The gene for ClC-5 that is mutated in X-linked nephro- they often exhibit this symptom on presentation. lithiasis (Dent’s disease) is expressed in the endosomal Urinary acidification is usually normal, and patients do vacuoles of the proximal tubule; it appears to be impor- not have acidosis in the absence of advanced renal tant in acidification of the endosome. Thus, defective insufficiency. Nephrocalcinosis is common by the endosomal function would explain the LMW proteinuria. teenage years, and often earlier. Renal failure is common The mechanism of hypercalcinuria remains unexplained and often progresses to end-stage renal disease by the at present. This gene belongs to the family of voltage- fourth or fifth decade, although some patients escape it. gated chloride channels that includes ClC-Kb, one of the Renal biopsy documents a nonspecific pattern of inter- gene mutations in some patients with Bartter syndrome. stitial fibrosis and tubular atrophy, with glomerular scle- To date, 32 mutations have been reported in 40 families, rosis that is probably secondary [11]. and nearly all are unique [11]. 11.6 Tubulointerstitial Disease HYPEROXALURIA Type Mechanism Clinical consequences Primary (genetic): PH1 Functional deficiency of AGT Nephrolithiasis Nephrocalcinosis and progressive renal failure Systemic oxalosis (kidneys, bones, cartilage, teeth, eyes, peripheral nerves, central nervous system, heart, vessels, bone marrow) PH2 Functional deficiency of DGDH Nephrolithiasis Secondary: Dietary Sources include for example spinach, rhubarb, beets, peanuts, Increased risk of nephrolithiasis chocolate, and tea Enteric Enhanced oxalate absorption because of increased oxalate solu- Nephrolithiasis bility, bile salt malabsorption, and altered gut flora (eg, inflam- Nephrocalcinosis matory bowel disease and bowel resection) Systemic oxalosis (rarely) Metabolism from excess of precursors Ascorbate Nephrolithiasis Ethylene glycol, glycine, glycerol, xylitol, methoxyflurane Tubular obstruction by crystals leading to acute renal failure Pyridoxine deficiency Cofactor for AGT Nephrolithiasis FIGURE 11-9 Oxalate is a metabolic end-product of limited solubility in physiologic from either exposure to metabolic precursors of oxalate or pyri- solution. Thus, the organism is highly dependent on urinary excretion, doxine deficiency. Normally, dietary sources of oxalate account for which involves net secretion. Normal urine is supersaturated with only approximately 10% of urinary oxalate. Restriction of dietary respect to calcium oxalate. Crystallization is prevented by a number of oxalate can be effective in some patients with kidney stones who endogenous inhibitors, including citrate. A mild excess of oxalate load, are hyperoxaluric, but even conscientious adherence to dietary as occurs with excessive dietary intake, contributes to nephrolithiasis. restriction is disappointing in many patients who may have mild A more severe oxalate overload, as in type 1 primary hyperoxaluria, metabolic hyperoxaluria, an entity that probably exists but is poorly can lead to organ damage through tissue deposition of calcium oxalate understood. Intestinal absorption of oxalate can be enhanced and possibly through the toxic effects of glyoxalate [12]. markedly in patients with bowel disease, particularly inflammatory Two types of primary hyperoxaluria (PH) have been identified bowel disease or after extensive bowel
Load more

Recommended publications
  • Congenital Chloride Diarrhea in a Bartter Syndrome Misdiagnosed
    Case Report iMedPub Journals Journal of Rare Disorders: Diagnosis & Therapy 2019 www.imedpub.com ISSN 2380-7245 Vol.5 No.2:4 DOI: 10.36648/2380-7245.5.2.196 Congenital Chloride Diarrhea in a Bartter Maria Helena Vaisbich*, Juliana Caires de Oliveira Syndrome Misdiagnosed Brazilian Patient Achili Ferreira, Ana Carola Hebbia Lobo Messa and Abstract Fernando Kok The differential diagnosis in children with hypokalemic hypochloremic alkalosis Department of Pediatric Nephrology, include a group of an inherited tubulopathies, such as Bartter Syndrome (BS) Instituto da Criança, University of São Paulo, and Gitelman Syndrome (GS). However, some of the clinically diagnosed São Paulo, Brasil patients present no pathogenic mutation in BS/GS known genes. Therefore, one can conclude that a similar clinical picture may be caused by PseudoBartter Syndrome (PBS) conditions. PBS include acquired renal problems (ex.: use of diuretics) as well as genetic or acquired extrarenal problems such as cystic *Corresponding author: fibrosis or cyclic vomiting, respectively. The accurate diagnosis of BS/GS needs Maria Helena Vaisbich a rational investigation. First step is to rule out PBS and confirm the primary renal tubular defect. However, it is not easy in some situations. In this sense, Department of Pediatric Nephrology, we reported a patient that was referred to our service with the diagnosis Instituto da Criança, University of São Paulo, of BS, but presented no mutation in BS/GS known genes. The whole-exome São Paulo, Brasil. sequencing detected a SCL26A3 likely pathogenic mutation leading to the final diagnosis of Congenital Chloride Diarrhea (CCD). Reviewing the records, the [email protected] authors noticed that liquid stools were mistaken for urine.
    [Show full text]
  • Pseudo-Bartter Syndrome As the Initial Presentation of Cystic Fibrosis in Infants: a Paediatrics Section Paediatrics Series of Three Cases and Review of Literature
    DOI: 10.7860/JCDR/2018/36189.11965 Case Series Pseudo-bartter Syndrome as the Initial Presentation of Cystic Fibrosis in Infants: A Paediatrics Section Paediatrics Series of Three cases and Review of Literature PRAWIN KUMAR1, NEERAJ GUPTA2, DAISY KHERA3, KULDEEP SINGH4 ABSTRACT Cystic Fibrosis (CF) is predominantly a disease of Caucasians, but it is increasingly being recognised in India. The typical presentations of CF are recurrent pneumonia and malabsorption. Atypical presentations are also increasingly being reported from India due to the differences in genotype and environmental factors. Pseudo-Bartter syndrome (PBS) is one of these atypical presentations which can present at any time after the diagnosis of CF but its presentation as an initial manifestation is rare. We hereby report three infants who presented with dehydration without obvious external losses. The investigations revealed metabolic alkalosis with hypochloraemia. A stepwise approach towards metabolic alkalosis revealed possibility of cystic fibrosis which was confirmed by sweat chloride test. All infants completely recovered with initial fluid and electrolyte therapy, following which supportive therapy for CF was started and subsequently they were discharged from the hospital. Keywords: Hypochloraemia, Metabolic alkalosis, Pseudo-Bartter Syndrome CASE SERIES sweat chloride test was not available at our centre so they were sent In this case series, we have described three infants in the age group to paediatric pulmonology division, AIIMS, New Delhi where sweat of 5-10 months from western Rajasthan, India, who presented with chloride test was performed (pilocarpine iontophoresis method), features of dehydration, without any evidence of obvious external which turned out to be positive (sweat chloride >60 mEq/L) in all fluid loss.
    [Show full text]
  • Hypokalemic Periodic Paralysis - an Owner's Manual
    Hypokalemic periodic paralysis - an owner's manual Michael M. Segal MD PhD1, Karin Jurkat-Rott MD PhD2, Jacob Levitt MD3, Frank Lehmann-Horn MD PhD2 1 SimulConsult Inc., USA 2 University of Ulm, Germany 3 Mt. Sinai Medical Center, New York, USA 5 June 2009 This article focuses on questions that arise about diagnosis and treatment for people with hypokalemic periodic paralysis. We will focus on the familial form of hypokalemic periodic paralysis that is due to mutations in one of various genes for ion channels. We will only briefly mention other �secondary� forms such as those due to hormone abnormalities or due to kidney disorders that result in chronically low potassium levels in the blood. One can be the only one in a family known to have familial hypokalemic periodic paralysis if there has been a new mutation or if others in the family are not aware of their illness. For more general background about hypokalemic periodic paralysis, a variety of descriptions of the disease are available, aimed at physicians or patients. Diagnosis What tests are used to diagnose hypokalemic periodic paralysis? The best tests to diagnose hypokalemic periodic paralysis are measuring the blood potassium level during an attack of paralysis and checking for known gene mutations. Other tests sometimes used in diagnosing periodic paralysis patients are the Compound Muscle Action Potential (CMAP) and Exercise EMG; further details are here. The most definitive way to make the diagnosis is to identify one of the calcium channel gene mutations or sodium channel gene mutations known to cause the disease. However, known mutations are found in only 70% of people with hypokalemic periodic paralysis (60% have known calcium channel mutations and 10% have known sodium channel mutations).
    [Show full text]
  • Inherited Renal Tubulopathies—Challenges and Controversies
    G C A T T A C G G C A T genes Review Inherited Renal Tubulopathies—Challenges and Controversies Daniela Iancu 1,* and Emma Ashton 2 1 UCL-Centre for Nephrology, Royal Free Campus, University College London, Rowland Hill Street, London NW3 2PF, UK 2 Rare & Inherited Disease Laboratory, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children National Health Service Foundation Trust, Levels 4-6 Barclay House 37, Queen Square, London WC1N 3BH, UK; [email protected] * Correspondence: [email protected]; Tel.: +44-2381204172; Fax: +44-020-74726476 Received: 11 February 2020; Accepted: 29 February 2020; Published: 5 March 2020 Abstract: Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have consequences on the whole organism. Establishing a genetic diagnosis in patients with renal tubular dysfunction is a challenging task given the genetic and phenotypic heterogeneity, functional characteristics of the genes involved and the number of yet unknown causes. Part of these difficulties can be overcome by gathering large patient cohorts and applying high-throughput sequencing techniques combined with experimental work to prove functional impact. This approach has led to the identification of a number of genes but also generated controversies about proper interpretation of variants. In this article, we will highlight these challenges and controversies. Keywords: inherited tubulopathies; next generation sequencing; genetic heterogeneity; variant classification. 1. Introduction Mutations in genes that encode transporter proteins in the renal tubule alter kidney capacity to maintain homeostasis and cause diseases recognized under the generic name of inherited tubulopathies.
    [Show full text]
  • Biochemical Profiling of Renal Diseases
    INTRODUCTION TO LABORATORY PROFILING Alan H. Rebar, DVM, Ph.D., Diplomate ACVP Purdue University, Discovery Park 610 Purdue Mall, West Lafayette, IN 47907-2040 Biochemical profiling may be defined as the use of multiple blood chemistry determinations to assess the health status of various organ systems simultaneously. Biochemical profiling rapidly has become a major diagnostic aid for the practicing veterinarian for several reasons. First, a more educated clientele has come to expect increased diagnostic sophistication. Secondly, the advent of high-volume clinical pathology laboratories has resulted in low prices that make profiling in veterinary practice feasible and convenient. In addition, improved technology has resulted in the development of procedures that can be used to obtain accurate analyses on microsamples of serum. Such procedures offer obvious advantages to veterinarians, who in the past were hindered by requirements for large sample size. Although biochemical profiling offers exciting potential, it is not a panacea. Since standard chemical screens provide 12 to 30 test results, interpretation of data may be extremely complex. Interpretation is often clouded by the fact that perfectly normal animals may have, indeed, are expected to have, an occasional abnormal test result. It is estimated that in a panel of 12 chemistry tests, approximately 46% of all normal subjects will have at least one abnormal test result. Such abnormalities do not reflect inaccuracies in laboratory test procedures but rather the way in which reference (or normal) values are determined. In order to establish the "normal range" for a given test, the procedure is performed on samples from a large population of clinically normal individuals.
    [Show full text]
  • Guidelines for Approach to a Child with Metabolic Acidosis (Including RTA)
    Guidelines for approach to a child with Metabolic acidosis (including RTA) Children’s Kidney Centre University Hospital of Wales Cardiff CF14 4XW DISCLAIMER: These guidelines were produced in good faith by the authors reviewing available evidence/opinion. They were designed for use by paediatric nephrologists at the University Hospital of Wales, Cardiff for children under their care. They are neither policies nor protocols but are intended to serve only as guidelines. They are not intended to replace clinical judgment or dictate care of individual patients. Responsibility and decision-making (including checking drug doses) for a specific patient lie with the physician and staff caring for that particular patient. Version 1, S. Hegde/Sept 2007 Metabolic acidosis ormal acid base balance Maintaining normal PH is essential for cellular enzymatic and other metabolic functions and normal growth and development. Although it is the intracellular PH that matter for cell function, we measure extra cellular PH as 1. It is easier to measure 2. It parallels changes in intracellular PH 3. Subject to more variation because of lesser number of buffers extra cellularly. Normal PH is maintained by intra and extra cellular buffers, lungs and kidneys. Buffers attenuate changes in PH when acid or alkali is added to the body and they act by either accepting or donating Hydrogen ions. Buffers function as base when acid is added or as acid when base is added to body. Main buffers include either bicarbonate or non-bicarbonate (proteins, phosphates and bone). Source of acid load: 1. CO2- Weak acid produced from normal metabolism, dealt with by lungs pretty rapidly(within hours) 2.
    [Show full text]
  • The Role of Potassium Recirculation in Cochlear Amplification
    The role of potassium recirculation in cochlear amplification Pavel Mistrika and Jonathan Ashmorea,b aUCL Ear Institute and bDepartment of Neuroscience, Purpose of review Physiology and Pharmacology, UCL, London, UK Normal cochlear function depends on maintaining the correct ionic environment for the Correspondence to Jonathan Ashmore, Department of sensory hair cells. Here we review recent literature on the cellular distribution of Neuroscience, Physiology and Pharmacology, UCL, Gower Street, London WC1E 6BT, UK potassium transport-related molecules in the cochlea. Tel: +44 20 7679 8937; fax: +44 20 7679 8990; Recent findings e-mail: [email protected] Transgenic animal models have identified novel molecules essential for normal hearing Current Opinion in Otolaryngology & Head and and support the idea that potassium is recycled in the cochlea. The findings indicate that Neck Surgery 2009, 17:394–399 extracellular potassium released by outer hair cells into the space of Nuel is taken up by supporting cells, that the gap junction system in the organ of Corti is involved in potassium handling in the cochlea, that the gap junction system in stria vascularis is essential for the generation of the endocochlear potential, and that computational models can assist in the interpretation of the systems biology of hearing and integrate the molecular, electrical, and mechanical networks of the cochlear partition. Such models suggest that outer hair cell electromotility can amplify over a much broader frequency range than expected from isolated cell studies. Summary These new findings clarify the role of endolymphatic potassium in normal cochlear function. They also help current understanding of the mechanisms of certain forms of hereditary hearing loss.
    [Show full text]
  • Date: 1/9/2017 Question: Botulism Is an Uncommon Disorder Caused By
    6728 Old McLean Village Drive, McLean, VA 22101 Tel: 571.488.6000 Fax: 703.556.8729 www.clintox.org Date: 1/9/2017 Question: Botulism is an uncommon disorder caused by toxins produced by Clostridium botulinum. Seven subtypes of botulinum toxin exist (subtypes A, B, C, D, E, F and G). Which subtypes have been noted to cause human disease and which ones have been reported to cause infant botulism specifically in the United States? Answer: According to the cited reference “Only subtypes A, B, E and F cause disease in humans, and almost all cases of infant botulism in the United States are caused by subtypes A and B. Botulinum-like toxins E and F are produced by Clostridium baratii and Clostridium butyricum and are only rarely implicated in infant botulism” (Rosow RK and Strober JB. Infant botulism: Review and clinical update. 2015 Pediatr Neurol 52: 487-492) Date: 1/10/2017 Question: A variety of clinical forms of botulism have been recognized. These include wound botulism, food borne botulism, and infant botulism. What is the most common form of botulism reported in the United States? Answer: According to the cited reference, “In the United States, infant botulism is by far the most common form [of botulism], constituting approximately 65% of reported botulism cases per year. Outside the United States, infant botulism is less common.” (Rosow RK and Strober JB. Infant botulism: Review and clinical update. 2015 Pediatr Neurol 52: 487-492) Date: 1/11/2017 Question: Which foodborne pathogen accounts for approximately 20 percent of bacterial meningitis in individuals older than 60 years of age and has been associated with unpasteurized milk and soft cheese ingestion? Answer: According to the cited reference, “Listeria monocytogenes, a gram-positive rod, is a foodborne pathogen with a tropism for the central nervous system.
    [Show full text]
  • Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery
    fphar-07-00121 May 7, 2016 Time: 11:45 # 1 REVIEW published: 10 May 2016 doi: 10.3389/fphar.2016.00121 Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery Paola Imbrici1*, Antonella Liantonio1, Giulia M. Camerino1, Michela De Bellis1, Claudia Camerino2, Antonietta Mele1, Arcangela Giustino3, Sabata Pierno1, Annamaria De Luca1, Domenico Tricarico1, Jean-Francois Desaphy3 and Diana Conte1 1 Department of Pharmacy – Drug Sciences, University of Bari “Aldo Moro”, Bari, Italy, 2 Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari “Aldo Moro”, Bari, Italy, 3 Department of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, Bari, Italy In the human genome more than 400 genes encode ion channels, which are transmembrane proteins mediating ion fluxes across membranes. Being expressed in all cell types, they are involved in almost all physiological processes, including sense perception, neurotransmission, muscle contraction, secretion, immune response, cell proliferation, and differentiation. Due to the widespread tissue distribution of ion channels and their physiological functions, mutations in genes encoding ion channel subunits, or their interacting proteins, are responsible for inherited ion channelopathies. These diseases can range from common to very rare disorders and their severity can be mild, Edited by: disabling, or life-threatening. In spite of this, ion channels are the primary target of only Maria Cristina D’Adamo, University of Perugia, Italy about 5% of the marketed drugs suggesting their potential in drug discovery. The current Reviewed by: review summarizes the therapeutic management of the principal ion channelopathies Mirko Baruscotti, of central and peripheral nervous system, heart, kidney, bone, skeletal muscle and University of Milano, Italy Adrien Moreau, pancreas, resulting from mutations in calcium, sodium, potassium, and chloride ion Institut Neuromyogene – École channels.
    [Show full text]
  • Tests for Abnormal Constituents in Urine
    By Sandipkumar Kanazariya Tuesday, December 11, 2018 1 Under pathological conditions urine excreted by patient shows the presence of abnormal constituents along with normal constituents. Abnormal constituents of urine are sugar, proteins, blood, bile salts, bile pigments and ketone bodies. Tuesday, December 11, 2018 2 A. Physical Characteristics 1. Volume : a. Polyuria: Volume more than 3000 ml / 24 hours It is observed in Diabetes mellitus, Diabetes insipidus, Addison’s disease, Chronic progressive renal failure, excess water intake, intake of diuretics like caffeine, alcohol etc. b. Oliguria: Volume less than 400 ml / 24 hours. It is observed in fluid deprivation, excess fluid loss as in hemorrhage and neurogenic shock, dehydration, acute glomerulonephritis, obstruction in the urinary tract, disease of heart and lungs & strenuous muscular exercise. Tuesday, December 11, 2018 3 c. Anuria: Less than 150ml / 24hrs Complete absence of urine output. It is observed in shock and renal failure. Tuesday, December 11, 2018 4 2. Colour:- The colour of urine is variable in following disease conditions as given following table Sr. No Colour possible causes/ disorder 1 Colour less Fatty disease, diabetes mellitus, Polyuria 2 Yellowish brown Bile pigment, fever 3 Reddish brown Hemoglobin in urine, hemorrhage, menstrual contamination 4 Milky Presence of Fat 5 Dark Yellow Fever 6 Dark green typhoid and cholera 7 Black Due to Melanin (Melanoma) or Homogentisic acid in Tuesday, December 11, 2018 Alkaptonuria 5 3. Odour:- Normal urine has faint aromatic odour. On standing it has ammoniacal odour due to bacterial contamination. Odour of urine is variable in certain diseased condition. Sr. No Odour diseases 1 Fruity odour ketosis 2 Cabbage type odour methionine Malabsorption 3 Maple sugar odour maple sugar urine disease(MSUD) 4 Mousy phenylketonuria 5 Rancid odour tyrosine 6 Foul Urinary Tract Infection, Tuesday, December 11, 2018 Vaginitis 6 Tuesday, December 11, 2018 7 4.
    [Show full text]
  • Obesity, Albuminuria, and Urinalysis Findings in US Young Adults from the Add Health Wave III Study
    CJASN ePress. Published on October 17, 2007 as doi: 10.2215/CJN.00540107 Obesity, Albuminuria, and Urinalysis Findings in US Young Adults from the Add Health Wave III Study Maria Ferris,* Susan L. Hogan,* Hyunsook Chin,* David A. Shoham,† Debbie S. Gipson,* Keisha Gibson,* Sema Yilmaz,‡ Ronald J. Falk,* and J. Charles Jennette§ *University of North Carolina Kidney Center and Division of Nephrology and Hypertension and §Department of Pathology and Laboratory Animal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; †Department of Preventive Medicine and Epidemiology, Loyola University Chicago, Stritch School of Medicine, Maywood, Illinois; and ‡Department of Pediatrics, Hospital of Dumlupinar University, Kutahya, Turkey Background and objectives: Obesity has been associated with kidney disease in adults. This study was designed to evaluate the association of obesity with an early marker of kidney disease, albuminuria, among young adults. and body mass ,(4463 ؍ albumin-to-creatinine ratio (n ,(9371 ؍ Design, setting, participants, & measurements: Urinalysis (n index (kg/m2) were measured in the Add Health Wave III cohort (2001 to 2002), a multiethnic sample of young adults followed for approximately 6 yr. Multivariate logistic regression modeled the association of sex-specific albuminuria with body mass index, adjusted for sample weights, sex, race, ethnicity, and glycosuria. Results: Urinalysis revealed that 0.8% had proteinuria, 4.6% had hematuria, 0.2% had combined hematuria and proteinuria, and 1.5% had glycosuria. Albuminuria prevalence was 4.4%. Mean body mass index was higher among those with albuminuria compared with those without. There were no associations between body mass index categories of 25 to <30 or 30 to <35 kg/m2 with albuminuria compared with the lowest body mass index (<25 kg/m2); however, the highest category (>35 kg/m2) was %95 ;4.0 ؍ CI: 1.02 to 3.04).
    [Show full text]
  • A Man with a Worrying Potassium Deficiency
    A Tabasum and others Gitelman’s syndrome and ID: 13-0067; January 2014 potassium deficiency DOI: 10.1530/EDM-13-0067 Open Access A man with a worrying potassium deficiency Correspondence 1 1 2 1 A Tabasum , C Shute , D Datta and L George should be addressed to A Tabasum 1Diabetes and Endocrinology 2Biochemistry, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK Email [email protected] Summary Hypokalaemia may present as muscle cramps and Cardiac arrhythmias. This is a condition commonly encountered by endocrinologists and general physicians alike. Herein, we report the case of a 43-year-old gentleman admitted with hypokalaemia, who following subsequent investigations was found to have Gitelman’s syndrome (GS). This rare, inherited, autosomal recessive renal tubular disorder is associated with genetic mutations in the thiazide-sensitive sodium chloride co-transporter and magnesium channels in the distal convoluted tubule. Patients with GS typically presents at an older age, and a spectrum of clinical presentations exists, from being asymptomatic to predominant muscular symptoms. Clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Treatment of GS consists of long-term potassium and magnesium salt replacement. In general, the long-term prognosis in terms of preserved renal function and life expectancy is excellent. Herein, we discuss the biochemical imbalance in the aetiology of GS, and the case report highlights the need for further investigations in patients with recurrent hypokalaemic episodes. Learning points: † Recurrent hypokalaemia with no obvious cause warrants investigation for hereditary renal tubulopathies. † GS is the most common inherited renal tubulopathy with a prevalence of 25 per million people.
    [Show full text]