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Nephropathic cystinosis: an international consensus document

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Published:29th Sep 2014
Author: <p>Emma F, Nesterova G, Langman C, Labb&eacute; A, Cherqui S, Goodyer P, Janssen MC, et al.</p>
Availability: Free full text
Ref.:Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv87-94
DOI:10.1093/ndt/gfu090

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.

 

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