Nephropathic cystinosis: an international consensus document

Emma, Francesco; Nesterova, Galina; Langman, Craig; Labbe, Antoine; Cherqui, Stephanie; Goodyer, Paul; Janssen, Mirian; Greco, Marcella; TOPALOĞLU, REZAN; Elenberg, Ewa; Dohil, Ranjan; Trauner, Doris; Antignac, Corinne; Cochat, Pierre; Kaskel, Frederick; Servais, Aude; Wuehl, Elke; Niaudet, Patrick; Van't Hoff, William; Gahl, William; Levtchenko, Elena

doi:10.1093/ndt/gfu090

Nephropathic cystinosis: an international consensus document

Emma F., Nesterova G., Langman C., Labbe A., Cherqui S., Goodyer P., ...Daha Fazla

NEPHROLOGY DIALYSIS TRANSPLANTATION, cilt.29, ss.87-94, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Derleme
Cilt numarası: 29
Basım Tarihi: 2014
Doi Numarası: 10.1093/ndt/gfu090
Dergi Adı: NEPHROLOGY DIALYSIS TRANSPLANTATION
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.87-94
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

Özet

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.