Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
Vol. 22, No. 4, 2012, pp. 543-546
Bioline Code: pe12100
Full paper language: English
Document type: Case Report
Document available free of charge
Iranian Journal of Pediatrics, Vol. 22, No. 4, 2012, pp. 543-546
© Copyright 2012 - Iranian Journal of Pediatrics
A Patient with Cystinosis Presenting Like Bartter Syndrome and Review of Literature|
Ertan, Pelin; Evrengul, Havva; Ozen, Serkan & Emre, Sinan
Background: Nephropathic cystinosis is an autosomal recessively inherited metabolic disorder presenting
with metabolic acidosis, Fanconi syndrome and renal failure.
Case Presentation: We present a 6-year-old girl with severe growth failure, hyponatremia and hypokalemia.
Her parents were 4th degree relatives. Two relatives were diagnosed as end stage renal failure. She also had
persistant hypokalemic hypochloremic metabolic alkalosis. Her renal function was normal at presentation.
She was thought to have Bartter syndrome with supporting findings of elevated levels of renin and
aldosterone with normal blood pressure, and hyperplasia of juxtaglomerular apparatus. Her metabolic
alkalosis did not resolve despite supportive treatment. At 6th month of follow-up proteinuria, glucosuria and
deterioration of renal function developed. Diagnosis of cystinosis was made with slit lamp examination and
leukocyte cystine levels. At 12th month of follow-up her metabolic alkalosis has converted to metabolic
Conclusion: In children presenting with persistant metabolic alkalosis, with family history of renal failure,
and parental consanguinity, cystinosis should always be kept in mind as this disease is an important cause of
end stage renal failure which may have features mimmicking Bartter syndrome.
Nephropathic Cystinosis; Bartter Syndrome; Children; Metabolic Alkalosis
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