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 Gahl; Elena Levtchenko

doi:10.1093/ndt/gfu090

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

Pediatrics

Research output: Contribution to journal › Review article › peer-review

153 Scopus citations

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.

Original language	English (US)
Pages (from-to)	iv87-iv94
Journal	Nephrology Dialysis Transplantation
Volume	29
DOIs	https://doi.org/10.1093/ndt/gfu090
State	Published - 2014

Keywords

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

ASJC Scopus subject areas

Nephrology
Transplantation

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10.1093/ndt/gfu090

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Emma, F., Nesterova, G., Langman, C., Labbé, A., Cherqui, S., Goodyer, P., Janssen, M. C., Greco, M., Topaloglu, R., Elenberg, E., Dohil, R., Trauner, D., Antignac, C., Cochat, P., Kaskel, F., Servais, A., Wühl, E., Niaudet, P., Van't Hoff, W., ... Levtchenko, E. (2014). Nephropathic cystinosis: An international consensus document. Nephrology Dialysis Transplantation, 29, iv87-iv94. https://doi.org/10.1093/ndt/gfu090

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, F, Servais, A, Wühl, E, Niaudet, P, Van't Hoff, W, Gahl, W & Levtchenko, E 2014, 'Nephropathic cystinosis: An international consensus document', Nephrology Dialysis Transplantation, vol. 29, pp. iv87-iv94. https://doi.org/10.1093/ndt/gfu090

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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.",

keywords = "CTNS gene, Cysteamine treatment, Cystinosis, Extra-renal complications, Renal Fanconi syndrome",

author = "Francesco Emma and Galina Nesterova and Craig Langman and Antoine Labb{\'e} and Stephanie Cherqui and Paul Goodyer and Janssen, {Mirian C.} and Marcella Greco and Rezan Topaloglu and Ewa Elenberg and Ranjan Dohil and Doris Trauner and Corinne Antignac and Pierre Cochat and Frederick Kaskel and Aude Servais and Elke W{\"u}hl and Patrick Niaudet and {Van't Hoff}, William and William Gahl and Elena Levtchenko",

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year = "2014",

doi = "10.1093/ndt/gfu090",

language = "English (US)",

volume = "29",

pages = "iv87--iv94",

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T2 - An international consensus document

AU - Emma, Francesco

AU - Nesterova, Galina

AU - Langman, Craig

AU - Labbé, Antoine

AU - Cherqui, Stephanie

AU - Goodyer, Paul

AU - Janssen, Mirian C.

AU - Greco, Marcella

AU - Topaloglu, Rezan

AU - Elenberg, Ewa

AU - Dohil, Ranjan

AU - Trauner, Doris

AU - Antignac, Corinne

AU - Cochat, Pierre

AU - Kaskel, Frederick

AU - Servais, Aude

AU - Wühl, Elke

AU - Niaudet, Patrick

AU - Van't Hoff, William

AU - Gahl, William

AU - Levtchenko, Elena

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - CTNS gene

KW - Cysteamine treatment

KW - Cystinosis

KW - Extra-renal complications

KW - Renal Fanconi syndrome

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SP - iv87-iv94

JO - Nephrology Dialysis Transplantation

JF - Nephrology Dialysis Transplantation

ER -

Nephropathic cystinosis: An international consensus document

Abstract

Keywords

ASJC Scopus subject areas

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