Abstract
A 4 yr girl presented with profound polyuria,clinical features of cystinosis and electrolyte abnormalities of Bartter's syndrome.Phenotypic findings included flaxen hair,growth retardation,polydipsia,polyphagia and salt craving,BP 100/65,photophobia, crystals in conjunctiva,cornea and iris by slit lamp,pigmentary changes in macula,and peripheral retina.She had hypokalemic metabolic alkalosis(K 2.0,Cl 84,HCO3 24 mEq/L),inappropriate K loss in urine(14 mEq/L),polyuria(up to 1700 ml/24 hr), low urine SG(1.002),serum PO4 3.2 mg/dl.TRP 72%,generalized aminoaciduria but no glucosuria.WBC free-cystine content 1.1-2.8 ng/mg protein.Peripheral renin activity(PRA)> 50 ng/ml/hr.Indomethacin treatment(2 mg/kg/day)restored serum K to normal,reduced polyuria by 50% and allowed weight gain.After 1 mo,PRA decreased to 3.7 with emergence of hypertension,acidosis and hyperchloremia;serum PO4 fell to 2.0 mg/dl.Heavy glucosuria and aminoaciduria became constant findings.Electronmicroscopy of renal biopsy revealed cystine in tubular and interstitial cells;unfortunately JGA were not observed in the specimen.The full phenotype of the nephropathic form of cystinosis was thus unmasked by treatment of secondary Bartter's syndrome with indomethacin.
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Lemire, J., Kaplan, B. & Scriver, C. 1084 PRESENTATION OF CYSTINOSIS AS BARTTER'S SYNDROME AND CONVERSION TO FANCONI SYNDROME ON INDOMETHACIN TREATMENT. Pediatr Res 12 (Suppl 4), 544 (1978). https://doi.org/10.1203/00006450-197804001-01090
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DOI: https://doi.org/10.1203/00006450-197804001-01090