Nephropathic Cystinosis: An International Consensus Document

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Date
2014
Author
Emma, Francesco
Nesterova, Galina
Langman, Craig
Labbe, 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
Wuehl, Elke
Niaudet, Patrick
Van't Hoff, William
Gahl, William
Levtchenko, Elena
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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.
URI
https://doi.org/10.1093/ndt/gfu090
http://hdl.handle.net/11655/14269
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