期刊
NEPHROLOGY DIALYSIS TRANSPLANTATION
卷 29, 期 -, 页码 87-94出版社
OXFORD UNIV PRESS
DOI: 10.1093/ndt/gfu090
关键词
CTNS gene; cysteamine treatment; cystinosis; extra-renal complications; renal Fanconi syndrome
资金
- fund for Scientific Research, Flanders (F.W.O. Vlaanderen) [1801110N]
- National Human Genome Research Institute
- Cystinosis Research Foundation
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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