Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

BMC Nephrology

Research Article

Hasan Otukesh¹  Sally-Ann Hulton²  Pierre Cochat³  Aurélia Bertholet-Thomas³  Justine Bacchetta⁴  Jochen Ehrich⁵  Rejane de Paula Bernardes⁶  Ehsan Valavi⁷  Bülent Hacihamdioglu⁸  Marcella Greco⁹  Gabrielle Weiler^1,10  Behrouz Kassai^1,11  Julien Berthiller^1,11  Carlos Jose Cobenas^1,12  Bassam Saeed^1,13  Velibor Tasic^1,14  Kenza Soulami^1,15  Michel Fischbach^1,16  Georges Deschênes^1,17 

[1] Ali Asghar children Hospital, Teheran, Iran;Birmingham Children’s Hospital, Birmingham, England;Centre de référence des maladies rénales rares Néphrogones, hôpital Femme–Mère–Enfant, Hospices Civils de Lyon & Université Claude-Bernard Lyon 1, Lyon, France;Centre de référence des maladies rénales rares Néphrogones, hôpital Femme–Mère–Enfant, Hospices Civils de Lyon & Université Claude-Bernard Lyon 1, Lyon, France;Centre de référence des maladies rénales rares - Néphrogones, Hôpital Femme–Mère-Enfant, 59, boulevard Pinel, 69677, Bron cedex, France;Children’s Hospital, Hannover Medical School, Hannover, Germany;Clinica Nefrokids, Curitiba, Brazil;Department of Nephrology, Jundishapur University of Medical Sciences, Ahvaz, Iran;Department of Pediatrics of Gulhane Military, Gulhane, Turkey;Division of Nephrology and Dialysis, Children’s Hospital Bambino Gesù, IRCCS, Roma, Italy;Division of nephrology, Children’s hospital of Eastern Ontario, Ottawa, Canada;Hospices Civils de Lyon, Pôle Information Médicale Evaluation Recherche, Lyon, France;Epidémiologie, Pharmacologie, Investigation Clinique CIC 1407 Inserm, Information médicale, Mère-Enfant–Bron, Bron, France;Université Lyon 1, Equipe d’Accueil 4129, Lyon, France;Hospital de Ninos Ludovica La plata, La plata, Argentina;Kidney Hospital, Damascus, Syria;Medical School, University Children’s Hospital, Skopje, Macedonia;Pediatric Nephrology, 295 Bd Abdelmoumen, Casablanca, Morocco;Service de néphrologie pédiatrique, Hôpital Hautepierre, Strasbourg, France;Service de néphrologie pédiatrique, Hôpital Robert Debré, Université Sorbonne Paris, Paris, France;

关键词: Nephropathic cystinosis;    Cysteamine;    Developing nations;   

DOI  :  10.1186/s12882-017-0633-3

 received in 2016-08-05, accepted in 2017-06-21,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundNephropathic 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].MethodsA questionnaire was sent between April 2010 and May 2011 to 87 members of the International Pediatric Nephrology Association, in 50 countries.ResultsA 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.ConclusionsMajor 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.

【 授权许可】

CC BY   
© The Author(s). 2017