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 J. Kaskel, Aude Servais, Elke Wühl, Patrick Niaudet, William Van't Hoff, William GahlElena Levtchenko

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

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.

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Cystinosis
Fanconi Syndrome
Symporters
Cystine
Expert Testimony
Protons
Mutation
Therapeutics
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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 J.; Servais, Aude; Wühl, Elke; Niaudet, Patrick; Van't Hoff, William; Gahl, William; Levtchenko, Elena.

In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Vol. 29 Suppl 4, 2014.

Research output: Contribution to journalArticle

Emma, F, Nesterova, G, Langman, C, Labbé, A, Cherqui, S, Goodyer, P, Janssen, MC, Greco, M, Topaloglu, R, Elenberg, E, Dohil, R, Trauner, D, Antignac, C, Cochat, P, Kaskel, FJ, Servais, A, Wühl, E, Niaudet, P, Van't Hoff, W, Gahl, W & Levtchenko, E 2014, 'Nephropathic cystinosis: an international consensus document.', Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, vol. 29 Suppl 4. https://doi.org/10.1093/ndt/gfu090
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 J. ; Servais, Aude ; Wühl, Elke ; Niaudet, Patrick ; Van't Hoff, William ; Gahl, William ; Levtchenko, Elena. / Nephropathic cystinosis : an international consensus document. In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2014 ; Vol. 29 Suppl 4.
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AU - Goodyer, Paul

AU - Janssen, Mirian C.

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