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Nephropathic cystinosis: an international consensus document.

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.

SUBMITTER: Emma F 

PROVIDER: S-EPMC4158338 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

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Nephropathic cystinosis: an international consensus document.

Emma Francesco F   Nesterova Galina G   Langman Craig C   Labbé Antoine A   Cherqui Stephanie S   Goodyer Paul P   Janssen Mirian C MC   Greco Marcella M   Topaloglu Rezan R   Elenberg Ewa E   Dohil Ranjan R   Trauner Doris D   Antignac Corinne C   Cochat Pierre P   Kaskel Frederick F   Servais Aude A   Wühl Elke E   Niaudet Patrick P   Van't Hoff William W   Gahl William W   Levtchenko Elena E  

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 20140901

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 guidan  ...[more]

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