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An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

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An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. / Emma, Francesco; Hoff, William Van't; Hohenfellner, Katharina; Topaloglu, Rezan; Greco, Marcella; Ariceta, Gema; Bettini, Chiara; Bockenhauer, Detlef; Veys, Koenraad; Pape, Lars; Hulton, Sally; Collin, Suzanne; Ozaltin, Fatih; Servais, Aude; Deschênes, Georges; Novo, Robert; Bertholet-Thomas, Aurélia; Oh, Jun; Cornelissen, Elisabeth; Janssen, Mirian; Haffner, Dieter; Ravà, Lucilla; Antignac, Corinne; Devuyst, Olivier; Niaudet, Patrick; Levtchenko, Elena.

in: KIDNEY INT, Jahrgang 100, Nr. 5, 11.2021, S. 1112-1123.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Emma, F, Hoff, WV, Hohenfellner, K, Topaloglu, R, Greco, M, Ariceta, G, Bettini, C, Bockenhauer, D, Veys, K, Pape, L, Hulton, S, Collin, S, Ozaltin, F, Servais, A, Deschênes, G, Novo, R, Bertholet-Thomas, A, Oh, J, Cornelissen, E, Janssen, M, Haffner, D, Ravà, L, Antignac, C, Devuyst, O, Niaudet, P & Levtchenko, E 2021, 'An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis', KIDNEY INT, Jg. 100, Nr. 5, S. 1112-1123. https://doi.org/10.1016/j.kint.2021.06.019

APA

Emma, F., Hoff, W. V., Hohenfellner, K., Topaloglu, R., Greco, M., Ariceta, G., Bettini, C., Bockenhauer, D., Veys, K., Pape, L., Hulton, S., Collin, S., Ozaltin, F., Servais, A., Deschênes, G., Novo, R., Bertholet-Thomas, A., Oh, J., Cornelissen, E., ... Levtchenko, E. (2021). An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. KIDNEY INT, 100(5), 1112-1123. https://doi.org/10.1016/j.kint.2021.06.019

Vancouver

Emma F, Hoff WV, Hohenfellner K, Topaloglu R, Greco M, Ariceta G et al. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. KIDNEY INT. 2021 Nov;100(5):1112-1123. https://doi.org/10.1016/j.kint.2021.06.019

Bibtex

@article{227c75ce7c4646e6ba96986f42b61e60,
title = "An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis",
abstract = "Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs. Over the years, the disease has evolved from being a fatal condition during early childhood into a treatable condition, with patients surviving into adulthood. Data on cystinosis are limited by the rarity of the disease. Here, we have investigated factors associated with kidney and growth outcome in a very large cohort of 453 patients born between 1964 and 2016 and followed in Belgium, Germany, Austria, France, Italy, Spain, The Netherlands, Turkey and United Kingdom. From the 1970's to the 1990's, the median increase in kidney survival was 9.1 years. During these years, cysteamine, a cystine-depleting agent, was introduced for the treatment of cystinosis. Significant risk factors associated with early progression to end-stage kidney disease assessed by Cox proportional multivariable analysis included delayed initiation of cysteamine therapy and higher mean leucocyte cystine levels. No significant effect on kidney function was observed for gender, pathogenic variant of the CTNS gene, and the prescription of indomethacin or renin angiotensin system blockers. Significantly improved linear growth was associated with early use of cysteamine and lower leukocyte cystine levels. Thus, our study provides strong evidence in favor of early diagnosis and optimization of cystine depletion therapy in nephropathic cystinosis.",
author = "Francesco Emma and Hoff, {William Van't} and Katharina Hohenfellner and Rezan Topaloglu and Marcella Greco and Gema Ariceta and Chiara Bettini and Detlef Bockenhauer and Koenraad Veys and Lars Pape and Sally Hulton and Suzanne Collin and Fatih Ozaltin and Aude Servais and Georges Desch{\^e}nes and Robert Novo and Aur{\'e}lia Bertholet-Thomas and Jun Oh and Elisabeth Cornelissen and Mirian Janssen and Dieter Haffner and Lucilla Rav{\`a} and Corinne Antignac and Olivier Devuyst and Patrick Niaudet and Elena Levtchenko",
note = "Copyright {\textcopyright} 2021. Published by Elsevier Inc.",
year = "2021",
month = nov,
doi = "10.1016/j.kint.2021.06.019",
language = "English",
volume = "100",
pages = "1112--1123",
journal = "KIDNEY INT",
issn = "0085-2538",
publisher = "NATURE PUBLISHING GROUP",
number = "5",

}

RIS

TY - JOUR

T1 - An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

AU - Emma, Francesco

AU - Hoff, William Van't

AU - Hohenfellner, Katharina

AU - Topaloglu, Rezan

AU - Greco, Marcella

AU - Ariceta, Gema

AU - Bettini, Chiara

AU - Bockenhauer, Detlef

AU - Veys, Koenraad

AU - Pape, Lars

AU - Hulton, Sally

AU - Collin, Suzanne

AU - Ozaltin, Fatih

AU - Servais, Aude

AU - Deschênes, Georges

AU - Novo, Robert

AU - Bertholet-Thomas, Aurélia

AU - Oh, Jun

AU - Cornelissen, Elisabeth

AU - Janssen, Mirian

AU - Haffner, Dieter

AU - Ravà, Lucilla

AU - Antignac, Corinne

AU - Devuyst, Olivier

AU - Niaudet, Patrick

AU - Levtchenko, Elena

N1 - Copyright © 2021. Published by Elsevier Inc.

PY - 2021/11

Y1 - 2021/11

N2 - Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs. Over the years, the disease has evolved from being a fatal condition during early childhood into a treatable condition, with patients surviving into adulthood. Data on cystinosis are limited by the rarity of the disease. Here, we have investigated factors associated with kidney and growth outcome in a very large cohort of 453 patients born between 1964 and 2016 and followed in Belgium, Germany, Austria, France, Italy, Spain, The Netherlands, Turkey and United Kingdom. From the 1970's to the 1990's, the median increase in kidney survival was 9.1 years. During these years, cysteamine, a cystine-depleting agent, was introduced for the treatment of cystinosis. Significant risk factors associated with early progression to end-stage kidney disease assessed by Cox proportional multivariable analysis included delayed initiation of cysteamine therapy and higher mean leucocyte cystine levels. No significant effect on kidney function was observed for gender, pathogenic variant of the CTNS gene, and the prescription of indomethacin or renin angiotensin system blockers. Significantly improved linear growth was associated with early use of cysteamine and lower leukocyte cystine levels. Thus, our study provides strong evidence in favor of early diagnosis and optimization of cystine depletion therapy in nephropathic cystinosis.

AB - Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs. Over the years, the disease has evolved from being a fatal condition during early childhood into a treatable condition, with patients surviving into adulthood. Data on cystinosis are limited by the rarity of the disease. Here, we have investigated factors associated with kidney and growth outcome in a very large cohort of 453 patients born between 1964 and 2016 and followed in Belgium, Germany, Austria, France, Italy, Spain, The Netherlands, Turkey and United Kingdom. From the 1970's to the 1990's, the median increase in kidney survival was 9.1 years. During these years, cysteamine, a cystine-depleting agent, was introduced for the treatment of cystinosis. Significant risk factors associated with early progression to end-stage kidney disease assessed by Cox proportional multivariable analysis included delayed initiation of cysteamine therapy and higher mean leucocyte cystine levels. No significant effect on kidney function was observed for gender, pathogenic variant of the CTNS gene, and the prescription of indomethacin or renin angiotensin system blockers. Significantly improved linear growth was associated with early use of cysteamine and lower leukocyte cystine levels. Thus, our study provides strong evidence in favor of early diagnosis and optimization of cystine depletion therapy in nephropathic cystinosis.

U2 - 10.1016/j.kint.2021.06.019

DO - 10.1016/j.kint.2021.06.019

M3 - SCORING: Journal article

C2 - 34237326

VL - 100

SP - 1112

EP - 1123

JO - KIDNEY INT

JF - KIDNEY INT

SN - 0085-2538

IS - 5

ER -