Nephropathic cystinosis: an international consensus document

Emma, Francesco; Nesterova, Galina; Langman, Craig; Labbe, Antoine; Cherqui, Stephanie; Goodyer, Paul; Janssen, Mirian; Greco, Marcella; TOPALOĞLU, REZAN; Elenberg, Ewa; Dohil, Ranjan; Trauner, Doris; Antignac, Corinne; Cochat, Pierre; Kaskel, Frederick; Servais, Aude; Wuehl, Elke; Niaudet, Patrick; Van't Hoff, William; Gahl, William; Levtchenko, Elena

doi:10.1093/ndt/gfu090

Nephropathic cystinosis: an international consensus document

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

NEPHROLOGY DIALYSIS TRANSPLANTATION, vol.29, pp.87-94, 2014 (SCI-Expanded)

Publication Type: Article / Review
Volume: 29
Publication Date: 2014
Doi Number: 10.1093/ndt/gfu090
Journal Name: NEPHROLOGY DIALYSIS TRANSPLANTATION
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.87-94
Hacettepe University Affiliated: Yes

Abstract

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.