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Nephropathic cystinosis: an international consensus document

Nephropathic cystinosis: an international consensus document

Francesco Emma1, Galina Nesterova2, Craig Langman3, Antoine Labbé4,5, Stephanie Cherqui6, Paul Goodyer7, Mirian C. Janssen8, Marcella Greco1, Rezan Topaloglu9, Ewa Elenberg10, Ranjan Dohil11, Doris Trauner12, Corinne Antignac13,14,15, Pierre Cochat16, Frederick Kaskel17, Aude Servais18, ElkeWühl19, Patrick Niaudet20,William Van’t Hoff21,William Gahl2 and Elena Levtchenko22

Full Review – as Published in Nephrol Dial Transplant, (2014) 29: iv87–iv94, 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.


Cystinosis is a rare autosomal-recessive lysosomal storage disease with an incidence of ?0.5–1.0 per 100 000 live births. Although phenotypes may overlap, three clinical forms are recognized. The most severe and frequent form, affecting ?95% of patients, is termed infantile nephropathic cystinosis (OMIM 219800); patients generally develop clinical symptoms related to renal Fanconi syndrome during the first year of life. Juvenile or late-onset nephropathic cystinosis (OMIM 219900) is usually diagnosed later in childhood or during adolescence; patients present with milder forms of renal Fanconi syndrome or with isolated proteinuria. Finally, the ocular or adult form (OMIM 219750) is characterized by isolated symptoms related to corneal cystine crystal depositions and is rarely diagnosed before adulthood [1].

Owing to the rarity of nephropathic cystinosis, the diagnosis is often delayed; some patients are diagnosed only when they present with end-stage renal disease (ESRD). This text summarizes shared opinions among experts to increase disease awareness and to guide diagnosis and treatment. Unless specified, this document focuses on infantile nephropathic cystinosis.

Full Publication: International consensus-Nephrol. Dial. Transplant.-2014-Emma-iv87-94

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