- Main
Nephropathic cystinosis: an international consensus document
- Emma, Francesco;
- Nesterova, Galina;
- Langman, Craig;
- Labbé, 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;
- Wühl, Elke;
- Niaudet, Patrick;
- Hoff, William Van't;
- Gahl, William;
- Levtchenko, Elena
- et al.
Published Web Location
https://doi.org/10.1093/ndt/gfu090Abstract
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.
Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.
Main Content
Enter the password to open this PDF file:
-
-
-
-
-
-
-
-
-
-
-
-
-
-