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Cystinosis Presenting with Features Suggesting Bartter SyndromeCase Report and Literature ReviewMetabolic Research Unit, Shriners Hospital for Crippled Children, 2001 South Lindbergh Blvd., St. Louis, MO 63131
From the Metabolic Research Unit, Shriners Hospitals for Crippled Children; the Division of Bone and Mineral Metabolism, Department of Medicine, The Jewish Hospital of St. Louis; Washington University School of Medicine; and Edward Mauinckrodt Department of Pediatrics, St. Louis ChHdren's Hospital, St. Louis, Missouri.
From the Metabolic Research Unit, Shriners Hospitals for Crippled Children; the Division of Bone and Mineral Metabolism, Department of Medicine, The Jewish Hospital of St. Louis; Washington University School of Medicine; and Edward Mauinckrodt Department of Pediatrics, St. Louis ChHdren's Hospital, St. Louis, Missouri. Features suggestive of Bartter syndrome (hypokalemia, hypochloremic metabolic alkalosis, and normal blood pressure despite hyperreninemia and hyperaldoster onism) were found in a 5-year-old black child with cystinosis and Fanconi syndrome. Review of his medical records revealed that these abnormalities had probably been present when he first became clinically ill at 2 years of age. Sodium and potassium chloride supplementation lead to improved growth and strength, partial correction of his electrolyte abnormalities, and a decrease in markedly elevated plasma renin activity. Literature review disclosed a similar presentation in four Caucasian children with cystinosis. Biochemical findings compatible with Bartter syndrome can occur together with evidence of generalized proximal renal tubular dysfunction (Fanconi syn drome) in nephropathic cystinosis.
Clinical Pediatrics, Vol. 24, No. 8,
447-451 (1985) |
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