Worldwide view of nephropathic cystinosis: results from a survey from 30 countries
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 mana...
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BMC
2017-07-01
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Online Access: | http://link.springer.com/article/10.1186/s12882-017-0633-3 |
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author | 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 |
author_facet | 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 |
author_sort | Aurélia Bertholet-Thomas |
collection | DOAJ |
description | 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. |
first_indexed | 2024-04-13T01:39:42Z |
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issn | 1471-2369 |
language | English |
last_indexed | 2024-04-13T01:39:42Z |
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spelling | doaj.art-8afe598531644acda5ce03c2356080dc2022-12-22T03:08:12ZengBMCBMC Nephrology1471-23692017-07-011811810.1186/s12882-017-0633-3Worldwide view of nephropathic cystinosis: results from a survey from 30 countriesAurélia Bertholet-Thomas0Julien Berthiller1Velibor Tasic2Behrouz Kassai3Hasan Otukesh4Marcella Greco5Jochen Ehrich6Rejane de Paula Bernardes7Georges Deschênes8Sally-Ann Hulton9Michel Fischbach10Kenza Soulami11Bassam Saeed12Ehsan Valavi13Carlos Jose Cobenas14Bülent Hacihamdioglu15Gabrielle Weiler16Pierre Cochat17Justine Bacchetta18Centre de référence des maladies rénales rares Néphrogones, hôpital Femme–Mère–Enfant, Hospices Civils de Lyon & Université Claude-Bernard Lyon 1Hospices Civils de Lyon, Pôle Information Médicale Evaluation RechercheMedical School, University Children’s HospitalHospices Civils de Lyon, Pôle Information Médicale Evaluation RechercheAli Asghar children HospitalDivision of Nephrology and Dialysis, Children’s Hospital Bambino Gesù, IRCCSChildren’s Hospital, Hannover Medical SchoolClinica NefrokidsService de néphrologie pédiatrique, Hôpital Robert Debré, Université Sorbonne ParisBirmingham Children’s HospitalService de néphrologie pédiatrique, Hôpital HautepierrePediatric Nephrology, 295 Bd AbdelmoumenKidney HospitalDepartment of Nephrology, Jundishapur University of Medical SciencesHospital de Ninos Ludovica La plataDepartment of Pediatrics of Gulhane MilitaryDivision of nephrology, Children’s hospital of Eastern OntarioCentre de référence des maladies rénales rares Néphrogones, hôpital Femme–Mère–Enfant, Hospices Civils de Lyon & Université Claude-Bernard Lyon 1Centre de référence des maladies rénales rares Néphrogones, hôpital Femme–Mère–Enfant, Hospices Civils de Lyon & Université Claude-Bernard Lyon 1Abstract 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.http://link.springer.com/article/10.1186/s12882-017-0633-3Nephropathic cystinosisCysteamineDeveloping nations |
spellingShingle | 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 Worldwide view of nephropathic cystinosis: results from a survey from 30 countries BMC Nephrology Nephropathic cystinosis Cysteamine Developing nations |
title | Worldwide view of nephropathic cystinosis: results from a survey from 30 countries |
title_full | Worldwide view of nephropathic cystinosis: results from a survey from 30 countries |
title_fullStr | Worldwide view of nephropathic cystinosis: results from a survey from 30 countries |
title_full_unstemmed | Worldwide view of nephropathic cystinosis: results from a survey from 30 countries |
title_short | Worldwide view of nephropathic cystinosis: results from a survey from 30 countries |
title_sort | worldwide view of nephropathic cystinosis results from a survey from 30 countries |
topic | Nephropathic cystinosis Cysteamine Developing nations |
url | http://link.springer.com/article/10.1186/s12882-017-0633-3 |
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