A Patient with Cystinosis Presenting Like Bartter Syndrome and Review of Literature

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 4(th) degree...

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Bibliografiska uppgifter
Huvudupphovsmän: Ertan, Pelin, Evrengul, Havva, Ozen, Serkan, Emre, Sinan
Materialtyp: Artigo
Språk:Inglês
Publicerad: Tehran University of Medical Sciences 2012
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3533159/
https://ncbi.nlm.nih.gov/pubmed/23431081
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