Nephropathic cystinosis: An international consensus document

Francesco Emma, Galina Nesterova, Craig Langman, Antoine Labbé, Stephanie Cherqui, Paul Goodyer, Mirian C. Janssen, Marcella Greco, Rezan Topaloglu, Ewa Elenberg, Ranjan Dohil, Doris Trauner, Corinne Antignac, Pierre Cochat, Frederick Kaskel, Aude Servais, Elke Wühl, Patrick Niaudet, William Van't Hoff, William GahlElena Levtchenko

Research output: Contribution to journalReview articlepeer-review

98 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)iv87-iv94
JournalNephrology Dialysis Transplantation
StatePublished - 2014


  • CTNS gene
  • Cysteamine treatment
  • Cystinosis
  • Extra-renal complications
  • Renal Fanconi syndrome

ASJC Scopus subject areas

  • Nephrology
  • Transplantation


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