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- Title
Nephropathic cystinosis: an international consensus document.
- Authors
Emma, Francesco; Nesterova, Galina; Langman, Craig; Labbé, Antoine; Cherqui, Stephanie; Goodyer, Paul; Janssen, Mirian C.; Greco, Marcella; Topaloglu, Rezan; Elenberg, Ewa; Dohil, Ranjan; Trauner, Doris; Antignac, Corinne; Cochat, Pierre; Kaskel, Frederick; Servais, Aude; Wühl, Elke; Niaudet, Patrick; Van't Hoff, William; Gahl, William
- 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.
- Subjects
CYSTINOSIS; GENETIC mutation; CYSTEAMINE; FANCONI syndrome; JUVENILE diseases; THERAPEUTICS
- Publication
Nephrology Dialysis Transplantation, 2014, Vol 29, Issue suppl_4, piv87
- ISSN
0931-0509
- Publication type
Article
- DOI
10.1093/ndt/gfu090