Nephropathic cystinosis: an international consensus document

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4(Suppl 4):iv87-94. doi: 10.1093/ndt/gfu090.


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.

Keywords: CTNS gene; cysteamine treatment; cystinosis; extra-renal complications; renal Fanconi syndrome.

Publication types

  • Consensus Development Conference
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Cystinosis / diagnosis*
  • Cystinosis / genetics
  • Cystinosis / therapy*
  • Fanconi Syndrome / diagnosis
  • Fanconi Syndrome / therapy
  • Humans
  • Practice Guidelines as Topic
  • Societies, Medical

Supplementary concepts

  • Cystinosis, Infantile Nephropathic