Worldwide view of nephropathic cystinosis

Results from a survey from 30 countries

Aurélia Bertholet-Thomas, Julien Berthiller, Velibor Tasic, Behrouz Kassai, Hasan Otukesh, Marcella Greco, Jochen Ehrich, Rejane De Paula Bernardes, Georges Deschênes, Sally Ann Hulton, Michel Fischbach, Kenza Soulami, Bassam Saeed, Ehsan Valavi, Carlos Jose Cobenas, Bülent Hacihamdioglu, Gabrielle Weiler, Pierre Cochat, Justine Bacchetta

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background: Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing nations [DiN] experience many challenges for management of cystinosis. The aim of this study was to assess the management characteristics in DiN compared with developed nations [DeN]. Methods: A questionnaire was sent between April 2010 and May 2011 to 87 members of the International Pediatric Nephrology Association, in 50 countries. Results: A total of 213 patients were included from 41 centres in 30 nations (109 from 17 DiN and 104 from 13 DeN). 7% of DiN patients died at a median age of 5 years whereas no death was observed in DeN. DiN patients were older at the time of diagnosis. In DiN, leukocyte cystine measurement was only available in selected cases for diagnosis but never for continuous monitoring. More patients had reached end-stage renal disease in DiN (53.2 vs. 37.9%, p = 0.03), within a shorter time of evolution (8 vs. 10 yrs., p = 0.0008). The earlier the cysteamine treatment, the better the renal outcome, since the median renal survival increased up to 16.1 [12.5-/] yrs. in patients from DeN treated before the age of 2.5 years of age (p = 0.0001). However, the renal survival was not statistically different between DeN and DiN when patients initiated cysteamine after 2.5 years of age. The number of transplantations and the time from onset of ESRD to transplantation were not different in DeN and DiN. More patients were kept under maintenance dialysis in DiN (26% vs.19%, p = 0.02); 79% of patients from DiN vs. 45% in DeN underwent peritoneal dialysis. Conclusions: Major discrepancies between DiN and DeN in the management of nephropathic cystinosis remain a current concern for many patients living in countries with limited financial resources.

Original languageEnglish
Article number210
JournalBMC Nephrology
Volume18
Issue number1
DOIs
Publication statusPublished - Jul 3 2017
Externally publishedYes

Fingerprint

Cystinosis
Developing Countries
Developed Countries
Cysteamine
Kidney
Chronic Kidney Failure
Surveys and Questionnaires
Transplantation
Cystine
Nephrology
Peritoneal Dialysis
Renal Insufficiency

Keywords

  • Cysteamine
  • Developing nations
  • Nephropathic cystinosis

ASJC Scopus subject areas

  • Nephrology

Cite this

Bertholet-Thomas, A., Berthiller, J., Tasic, V., Kassai, B., Otukesh, H., Greco, M., ... Bacchetta, J. (2017). Worldwide view of nephropathic cystinosis: Results from a survey from 30 countries. BMC Nephrology, 18(1), [210]. https://doi.org/10.1186/s12882-017-0633-3

Worldwide view of nephropathic cystinosis : Results from a survey from 30 countries. / Bertholet-Thomas, Aurélia; Berthiller, Julien; Tasic, Velibor; Kassai, Behrouz; Otukesh, Hasan; Greco, Marcella; Ehrich, Jochen; De Paula Bernardes, Rejane; Deschênes, Georges; Hulton, Sally Ann; Fischbach, Michel; Soulami, Kenza; Saeed, Bassam; Valavi, Ehsan; Cobenas, Carlos Jose; Hacihamdioglu, Bülent; Weiler, Gabrielle; Cochat, Pierre; Bacchetta, Justine.

In: BMC Nephrology, Vol. 18, No. 1, 210, 03.07.2017.

Research output: Contribution to journalArticle

Bertholet-Thomas, A, Berthiller, J, Tasic, V, Kassai, B, Otukesh, H, Greco, M, Ehrich, J, De Paula Bernardes, R, Deschênes, G, Hulton, SA, Fischbach, M, Soulami, K, Saeed, B, Valavi, E, Cobenas, CJ, Hacihamdioglu, B, Weiler, G, Cochat, P & Bacchetta, J 2017, 'Worldwide view of nephropathic cystinosis: Results from a survey from 30 countries', BMC Nephrology, vol. 18, no. 1, 210. https://doi.org/10.1186/s12882-017-0633-3
Bertholet-Thomas A, Berthiller J, Tasic V, Kassai B, Otukesh H, Greco M et al. Worldwide view of nephropathic cystinosis: Results from a survey from 30 countries. BMC Nephrology. 2017 Jul 3;18(1). 210. https://doi.org/10.1186/s12882-017-0633-3
Bertholet-Thomas, Aurélia ; Berthiller, Julien ; Tasic, Velibor ; Kassai, Behrouz ; Otukesh, Hasan ; Greco, Marcella ; Ehrich, Jochen ; De Paula Bernardes, Rejane ; Deschênes, Georges ; Hulton, Sally Ann ; Fischbach, Michel ; Soulami, Kenza ; Saeed, Bassam ; Valavi, Ehsan ; Cobenas, Carlos Jose ; Hacihamdioglu, Bülent ; Weiler, Gabrielle ; Cochat, Pierre ; Bacchetta, Justine. / Worldwide view of nephropathic cystinosis : Results from a survey from 30 countries. In: BMC Nephrology. 2017 ; Vol. 18, No. 1.
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AU - Bertholet-Thomas, Aurélia

AU - Berthiller, Julien

AU - Tasic, Velibor

AU - Kassai, Behrouz

AU - Otukesh, Hasan

AU - Greco, Marcella

AU - Ehrich, Jochen

AU - De Paula Bernardes, Rejane

AU - Deschênes, Georges

AU - Hulton, Sally Ann

AU - Fischbach, Michel

AU - Soulami, Kenza

AU - Saeed, Bassam

AU - Valavi, Ehsan

AU - Cobenas, Carlos Jose

AU - Hacihamdioglu, Bülent

AU - Weiler, Gabrielle

AU - Cochat, Pierre

AU - Bacchetta, Justine

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N2 - Background: Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing nations [DiN] experience many challenges for management of cystinosis. The aim of this study was to assess the management characteristics in DiN compared with developed nations [DeN]. Methods: A questionnaire was sent between April 2010 and May 2011 to 87 members of the International Pediatric Nephrology Association, in 50 countries. Results: A total of 213 patients were included from 41 centres in 30 nations (109 from 17 DiN and 104 from 13 DeN). 7% of DiN patients died at a median age of 5 years whereas no death was observed in DeN. DiN patients were older at the time of diagnosis. In DiN, leukocyte cystine measurement was only available in selected cases for diagnosis but never for continuous monitoring. More patients had reached end-stage renal disease in DiN (53.2 vs. 37.9%, p = 0.03), within a shorter time of evolution (8 vs. 10 yrs., p = 0.0008). The earlier the cysteamine treatment, the better the renal outcome, since the median renal survival increased up to 16.1 [12.5-/] yrs. in patients from DeN treated before the age of 2.5 years of age (p = 0.0001). However, the renal survival was not statistically different between DeN and DiN when patients initiated cysteamine after 2.5 years of age. The number of transplantations and the time from onset of ESRD to transplantation were not different in DeN and DiN. More patients were kept under maintenance dialysis in DiN (26% vs.19%, p = 0.02); 79% of patients from DiN vs. 45% in DeN underwent peritoneal dialysis. Conclusions: Major discrepancies between DiN and DeN in the management of nephropathic cystinosis remain a current concern for many patients living in countries with limited financial resources.

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