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Renal Failure Volume 32, 2010 - Issue 2
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Case Reports

Rare Presentation of Cystinosis Mimicking Bartter's Syndrome: Reports of Two Patients and Review of the Literature

Aysun Çaltik Dr. Sami Ulus Children Hospital, Pediatric Nephrology Department, Altındag, Ankara, TurkeyCorrespondence[email protected]
,
Sare Gülfem Akyüz Dr. Sami Ulus Children Hospital, Pediatric Nephrology Department, Altındag, Ankara, Turkey
,
Özlem Erdogan Dr. Sami Ulus Children Hospital, Pediatric Nephrology Department, Altındag, Ankara, Turkey
,
Mehmet Bülbül Dr. Sami Ulus Children Hospital, Pediatric Nephrology Department, Altındag, Ankara, Turkey
&
Gülay Demircin Dr. Sami Ulus Children Hospital, Pediatric Nephrology Department, Altındag, Ankara, Turkey
Pages 277-280 | Received 08 Sep 2009, Accepted 16 Dec 2009, Published online: 03 Mar 2010

REFERENCES

  • Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347:111–121.
  • The Cystinosis Collaborative Research Group. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat Genet. 1995;10:246–248.
  • Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, Hoff W van't, Antignac C. A novel gene encoding an integral membrane protein is mutated in cystinosis. Nat Genet. 1998;18:319–324.
  • Kalatzis V, Antignac C. New aspects of the pathogenesis of cystinosis. Pediatric Nephrol. 2003;18:207–215.
  • Gahl WA, Thoene JG, Schneider JA. Cystinosis: A disorder of lysosomal membrane transport. In Scriver CJ, Beaudet AL, Sly WS, Valle D ( eds.). The metabolic and molecular bases of inherited disease. McGraw-Hill, New York; 2001: 5085–5108.
  • Nesterova G, Gahl W. Nephropathic cystinosis: Late complications of a multisystemic disease. Pediatr Nephrol. 2002;23: 863–878.
  • Scriver C, Beaudet A, Sly W, Valle D. The metabolic and molecular bases of inherited disease. 8th ed. McGraw-Hill, New York; 2001:5085–5101.
  • Berio A. Nephropathy caused by cystinosis with secondary Bartter's syndrome. Personal experience in a case treated with prolonged diet therapy and acetylsalicylic acid therapy. Minerva Pediatr. 1978;30:1825–1831.
  • O'Regan S, Mongeau JG, Robitaile P. A patient with cystinosis presenting with the features of Bartter syndrome. Acta Pediatr Belg. 1980;44:638–646.
  • Lemire J, Kaplan BS. The various renal manifestations of the form of cystinosis. Am J Nephrol. 1984;4:81–85.
  • Whyte MP, Shaheb S, Schanaper HW. Cystinosis presenting with features suggesting Bartter syndrome. Case report and literature review. Clin Pediatr (Phila). 1985;24:447–451.
  • Pennesi M, Marchetti F, Crovella S, Boaretto F, Travan L, Lazzerini M, Neri E, Ventura A. A new mutation in two siblings with cystinosis presenting with Bartter syndrome. Pediatr Nephrol. 2005;20:217–219.
  • Yildiz B, Durmus-Aydogdu S, Kural N, Bildirici K, Basmak H, Yarar C. A patient with cystinosis presenting transient features of Bartter syndrome. The Turkish Journal of Pediatrics. 2006;48:260–262.

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