title: A patient with cystinosis presenting like bartter syndrome and review of literature.
abstract: BACKGROUND
  Nephropathic cystinosis is an autosomal recessively inherited metabolic disorder presenting with metabolic acidosis, Fanconi syndrome and renal failure.
  
  
  METHODS
  We present a 6-year-old girl with severe growth failure, hyponatremia and hypokalemia. Her parents were 4(th) 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 6(th) 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 12(th) month of follow-up her metabolic alkalosis has converted to metabolic acidosis.
  
  
  CONCLUSIONS
  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.
authors: Department of Pediatric Nephrology, Celal Bayar University, School of Medicine, Manisa, Turkey.
authors: Pelin
authors: P
authors: Ertan
authors: Havva
authors: H
authors: Evrengul
authors: Serkan
authors: S
authors: Ozen
authors: Sinan
authors: S
authors: Emre
keywords: Bartter Syndrome; Children; Metabolic Alkalosis; Nephropathic Cystinosis