Nephropathic cystinosis: an international consensus document | Zendy

Francesco Emma | Zendy; Galiesterova | Zendy; Craig B. Langman | Zendy; Antoine Labbé | Zendy; Stéphanie Cherqui | Zendy; Paul Goodyer | Zendy; Mirian C. H. Janssen | Zendy; Marcella Greco | Zendy; Rezan Topaloğlu | Zendy; Ewa Elenberg | Zendy; Ranjan Dohil | Zendy; Doris A. Trauner | Zendy; Corinne Antignac | Zendy; Pierre Cochat | Zendy; Frederick J. Kaskel | Zendy; Aude Servais | Zendy; Elke Wühl | Zendy; Patrick Niaudet | Zendy; William van’t Hoff | Zendy; William A. Gahl | Zendy; Elena Levtchenko | Zendy

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Nephropathic cystinosis: an international consensus document

Author(s) -

Francesco Emma,

Galiesterova,

Craig B. Langman,

Antoine Labbé,

Stéphanie Cherqui,

Paul Goodyer,

Mirian C. H. Janssen,

Marcella Greco,

Rezan Topaloğlu,

Ewa Elenberg,

Ranjan Dohil,

Doris A. Trauner,

Corinne Antignac,

Pierre Cochat,

Frederick J. Kaskel,

Aude Servais,

Elke Wühl,

Patrick Niaudet,

William van’t Hoff,

William A. Gahl,

Elena Levtchenko

Publication year - 2014

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/gfu090

Subject(s) - cystinosis , medicine , fanconi syndrome , cysteamine , cystine , pediatrics , bioinformatics , intensive care medicine , kidney , biology , biochemistry , cysteine , enzyme

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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