Nephropathic cystinosis: an international consensus document

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Emma F., Nesterova G., Langman C., Labbe A., Cherqui S., Goodyer P., ...Daha Fazla

NEPHROLOGY DIALYSIS TRANSPLANTATION, cilt.29, ss.87-94, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 29
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1093/ndt/gfu090
  • Dergi Adı: NEPHROLOGY DIALYSIS TRANSPLANTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.87-94
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this document, we have summarized expert opinions on several aspects of the disease to improve knowledge and provide guidance for diagnosis and treatment.