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Type IV Renal Tubular Acidosis Associated with Alport's Syndrome

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Type IV Renal Tubular Acidosis Associated with Alport's Syndrome CLINICAL REPORTS 823 Postgrad Med J: first published as 10.1136/pgmj.69.816.823 on 1 October 1993. Downloaded from Exploratory laparotomy revealed the fistula granulation tissue but they can become epi- opening internally at the isthmus of the uterus. At thelialized. Most fistulae originate from trauma or the isthmus the uterus was perforated and fetal from some type of infectious process that disrupts remnants in the form ofa few long bones were lying the continuity ofthe tissues involved. Once a fistula outside. A loop of the small bowel was densely is diagnosed the basic principle in the treatment is adherent at this site which perforated during obliteration of the primary opening of fistulous separation. There was no evidence ofregional ileitis tract. There is no non-surgical treatment for or endometriosis. Abdominal hysterectomy and fistula.4 resection and anastomosis of the small bowel was In this case the patient possibly developed carried out. (The couple had requested steriliza- uterine perforation leading to pelvic abscess tion.) The fistulous tract was excised. Histopath- extending to perinephric and right flank region due ology revealed no evidence of endometriosis, to septic abortion which were drained subse- Crohn's disease or tuberculosis. Postoperative quently. Conceivably the uterine perforation with recovery was uneventful and the external opening stenosis of the cervix due to interference led to healed completely. communication with the right flank and drainage through this area gave rise to the uterocutaneous fistula. Injection of contrast through the fistulous Discussi.l opening permitted an accurate diagnosis and extir- pation of the uterus produced a cure. A fistula is an abnormal communication between two epithelial surfaces. Fistulae are usually lined by References 1. Scott, J.S. Benign diseases of the vagina and vulva. In: 3. Silva, P.D., Richmond, J.A. & Lobo, R.A. Diagnosis and Whitefield, C.R. (ed.) Dewhurst's Textbook of Obstetrics and management of a tuberculous tuboappendiceal fistula. Am J Gynaecology for Postgraduates, 4th edn. Oxford University Obstet Gynecol 1988, 159: 440-441. copyright. Press, Oxford, 1986, p. 705-725. 4. Nova, P.F. Operative principles of fistula treatment. In: Nora, 2. Arthur, C.W., Herman, M. & Norber, R.B. Tubocutaneous P.F. (ed.) Operative Surgery Principles and Techniques, 2nd fistula. Am J Obstet Gynecol 1982, 144: 109-110. edn. Lea & Febiger, Philadelphia, 1974, pp. 508-516. Postgrad Med J (1993) 69, 823 -825 © The Fellowship of Postgraduate Medicine, 1993 Type IV renal tubular acidosis associated with Alport's http://pmj.bmj.com/ syndrome Ruzena Tkacov'a, R. Roland, A. Bd6rl, Anna Kovacov'a2, Ivica Laziurova3, I. Tkac4, T. Hildebrand and P. gefara Department ofInternal Medicine I, and Departments of'Pathological Anatomy, 2Biochemistry, 3Internal on October 1, 2021 by guest. Protected Medicine II, and4Internal Medicine IV, University Hospital, Trieda SNP 1, 040 66 Kosice, Slovakia Summary: A case of hereditary nephritis with mild reduction of renal function associated with renal tubular acidosis type IV is described. The patient was admitted with life-threatening hyperkalaemia. To our knowledge, type IV renal tubular acidosis has not been reported previously in association with Alport's syndrome in an adult patient. Correspondence: R. Tkacova, M.D., Department of Introduction Internal Medicine I, Medical Faculty, Safarik University, Trieda SNP 1, 040 66 Kosice, Slovakia. Hereditary nephritis or Alport's syndrome is a Accepted: 4 March 1993 heterogeneous group of inherited abnormalities of 824 CLINICAL REPORTS Postgrad Med J: first published as 10.1136/pgmj.69.816.823 on 1 October 1993. Downloaded from basement membranes which may result in renal Investigations failure, defective hearing and lens abnormalities.' Recently, a patient with previously diagnosed Daily urine was 1,200 ml, creatinine clearance was perceptive deafness presented with hyperkalaemia 0.78 ml/second. Urinalysis showed haematuria of 9.5 mmol/l, and was found to have mild reduc- (400 million erythrocytes in Addis sediment) with tion of glomerular filtration rate (GFR), and no white cells, casts or proteins. Natriuresis was ultrastructural changes of glomerular basement 93 mol/24 hours, urine potassium excretion membranes (GBM). Type IV renal tubular acidosis (11- 18 mmol/24 hours) were decreased, and cal- (RTA) was diagnosed by urine examination after cium excretion (0.7 mmol/24 hours), phosphorus acid loading. There are reports of this tubular excretion revealed increased values (32.4 mmol/24 dysfunction in children with nerve deafness,2'3 but hours). Dietary phosphorus intake was up to we have found no report on type IV RTA 1.6 g/24 hours. associated with Alport's syndrome in an adult The diagnosis of type IV RTA associated with patient. Alport's syndrome was suspected. The urinalysis dynamic tests showed the basal urine pH value 5.7, the administration of 10% calcium chloride at the Case report dose of 57 ml led to the urine pH of 5.14, fractional excretion of bicarbonate was 0.08%. Acid loading A 38 year old man ofGypsy origin was admitted to test revealed normal excretion of phosphates hospital in February 1992 with progressive mus- (550 nmol/second/1.73 m2, normal > 300 nmol/ cular weakness, abdominal pain and vomiting for 5 second/1.73 m2) whereas ammonium excretion was days. In his family history, sudden death had inadequately low (137 nmol/second/1.73 m2, nor- occurred in two brothers and one sister, apparently mal > 500 nmol/second/1.73 m2). Basal plasma as a result of a renal disease. The patient's history renin activity (PRA) was 0.9 ng/ml/hour (normal revealed a suggestion ofAlport's syndrome in 1987 0.5-1.5 ng/ml/hour), aldosterone (ALD) was during hospitalization in a district hospital, based 25.55pg/ml (normal 7.5-160pg/ml), atrial nat- on the confirmation of defective hearing and riuretic factor (ANF) was 5.74 pg/ml (normal microscopic haematuria; serum potassium levels 2-7 pg/ml). All hormonal activities were measuredcopyright. were up to 6.4 mmol/l at that time. using radioimmunoassay analysis. After postural On admission, he had a pulse rate of 60 beats/ stimulation combined with frusemide at the dose of minute, and systolic blood pressure of 100 mmHg. 80 mg the following hormone values were measur- Physical examination revealed asthenia, muscular ed: PRA, 0.98 ng/ml/hour; ALD, 47.21 pg/ml; weakness, and diffuse abdominal tenderness. His ANF, 2.6 pg/ml. The basal cortisol level was jugular venous pressure was 6 cm H20. There 750 nmol/l, 120 minutes after ACTH administra- were 14 mm high T waves in V2-V3 leads on tion (Synacthen, CIBA) at the dose of 2 mg it the electrocardiogram. Laboratory investigations increased up to 1,360 nmol/l, and thus primary showed extremely high serum potassium level hypocorticism was excluded. http://pmj.bmj.com/ (9.5 mmol/l), white blood cell count (WBC) Audiogram confirmed perceptive deafness affect- 19.1 x 109/1, haemoglobin 131 g/l, creatinine 155 ing both ears. A computed tomography scan of pmol/l, urea 11.2 mmol/l, sodium level 136 mmol/l, adrenals demonstrated no pathological changes. and phosphorus level 1.46 mmol/l. The laboratory On ultrasound both kidneys appeared to have evidence of hyperchloraemic metabolic acidosis normal size (left: 95 x 40 mm, right: 94 x 45 mm) with blood pH 7.287, base excess - 8.3 mmol/l, with parenchyma thickness of 14 mm; no patho- Pco2 4.97 kPa, bicarbonate level 17.2 mmol/l, and logical echo structures were found. At light serum chloride level of 113 mmol/l was present. microscopic examination kidney biopsy showed on October 1, 2021 by guest. Protected Haemodialysis was performed three times, each nonspecific changes with pronounced interstitial for 3 hours duration, within the first 24 hours. fibrosis, some areas of canalicular atrophy, and Other therapeutic methods were not considered in arteriolosclerotic changes of the arterioles with the period oflife-threatening hyperkalaemia. After their focal fibrinoid dystrophy. Ultrastructural haemodialysis sessions serum potassium level features ofthe glomeruli showed segmental mesan- decreased to 4.9 mmol/l, and T waves to 5 mm. No gial proliferation, segmental sclerosis and epithelial hypotensive episodes occurred during haemo- proliferation. GBM thickness varied significantly, dialysis, and systolic blood pressure remained and some areas ofextremely thin GBM were found 100-110 mmHg also in the next period at hospital. (Figure 1). Consequently, the patient was given treatment with frusemide at the dose of 20 mg and NaHCO3 of Discussion 1,500 mg per day, resulting in serum potassium levels in the range of 4.4-5.3 mmol/l. The patient The diagnosis of Alport's syndrome in the present was stable 6 months after discharge from hospital. case report was based on the criteria according to CLINICAL REPORTS 825 Postgrad Med J: first published as 10.1136/pgmj.69.816.823 on 1 October 1993. Downloaded from hereditary macrothrombocytopenia.7'8 However, no signs of these pathological conditions were present in our case. Type IV RTA is a syndrome of tubular dysfunc- tion manifested clinically by persistent hyper- kalaemia and metabolic acidosis that occurs usually in patients with mild to moderate chronic renal failure.9 Hyperkalaemia might contribute to the acidosis by limitating urinary buffer, but the primary defect is the reduced mineralocorticoid effect on hydrogen ion secretion.'1 Apart from primary hypocorticism, pseudohypoaldosteronism resulting in hyperchloraemic metabolic acidosis Figure 1 Marked focal thinning of the capillary base- with hyperkalaemia may occur in different patho- ment membranes (arrows) and foot process fusion on the logical conditions, such as diabetic nephropathy," visceral epithelial cells. Electron microscopy (original idiopathic interstitial nephritis,'2 chronic pyelo- magnification x 14,000). nephritis,'3 and in obstructive uropathy.'4 A case of type I (hypokalaemic) RTA was described in a male Genova et al.4: (1) perceptive deafness; (2) ultra- child with neural deafness in whom addition of structural abnormalities of GBM; (3) positive NaHCO3 and potassium to diet improved physical family history.
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