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10.1186/s12882-017-0633-3

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suck abstract from ncbi


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pmid28673276      BMC+Nephrol 2017 ; 18 (ä): ä
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  • Worldwide view of nephropathic cystinosis: results from a survey from 30 countries #MMPMID28673276
  • 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
  • BMC Nephrol 2017[]; 18 (ä): ä PMID28673276show ga
  • 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. Electronic supplementary material: The online version of this article (doi:10.1186/s12882-017-0633-3) contains supplementary material, which is available to authorized users.
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