title: Improvement in the renal prognosis in nephropathic cystinosis.
abstract: OBJECTIVE
  Nephropathic cystinosis (NC) is an autosomal recessive disorder occurring in one to two per 100,000 newborns. Because of the rarity of NC, long-term outcome data are scarce.
  
  
  METHODS
  245 NC patients from 18 countries provided data to the ESPN/ERA-EDTA registry. We matched NC patients on renal replacement therapy (RRT) to non-NC children on RRT.
  
  
  RESULTS
  Between 1979 and 2008, mean age at the start of RRT among NC children increased by 0.15 year per calendar year (95% confidence interval, 0.10 to 0.21) from 8.8 to 12.7 years, whereas we did not observe this in non-NC children. Five-year survival after the start of RRT improved in NC patients from 86.1% (before 1990) to 100% (since 2000) as compared with the control population (89.6% and 94.0%). NC patients received a renal allograft more often (relative risk, 1.09; 95% confidence interval, 1.00 to 1.17) as compared with matched RRT children, and 5-year graft survival was better (94.0% versus 84.0%). NC dialysis patients were less often hypertensive than non-NC children matched for age, country, and dialysis modality (42.7% versus 51.7%) and had lower parathyroid hormone levels (median, 56 versus 140 pg/ml). Although height at start of RRT slightly improved during the past decade, children with NC remained significantly shorter than non-NC children at the start of RRT.
  
  
  CONCLUSIONS
  We demonstrated improved survival of the renal function as well as better patient and graft survival after the start of RRT in a large European cohort of NC patients over the last two decades.
authors.affiliation: European Society for Paediatric Nephrology/European Renal Association and European Dialysis and Transplant Association Registry, Department of Medical Informatics, Academic Medical Center, Amsterdam, The Netherlands. K.J.vanStralen@amc.uva.nl
authors.forename: Karlijn J
authors.initials: KJ
authors.lastname: Van Stralen
authors.forename: Francesco
authors.initials: F
authors.lastname: Emma
authors.forename: Kitty J
authors.initials: KJ
authors.lastname: Jager
authors.forename: Enrico
authors.initials: E
authors.lastname: Verrina
authors.forename: Franz
authors.initials: F
authors.lastname: Schaefer
authors.forename: Guido F
authors.initials: GF
authors.lastname: Laube
authors.forename: Malcolm A
authors.initials: MA
authors.lastname: Lewis
authors.forename: Elena N
authors.initials: EN
authors.lastname: Levtchenko
mesh_terms: D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D002648:Child; D003554:Cystinosis / Q000097:blood / Q000150:complications / Q000401:mortality / Q000628:therapy*; D018450:Disease Progression; D005060:Europe / Q000453:epidemiology; D005198:Fanconi Syndrome; D005260:Female; D006085:Graft Survival; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D006973:Hypertension / Q000209:etiology; D053208:Kaplan-Meier Estimate; D007676:Kidney Failure, Chronic / Q000097:blood / Q000209:etiology / Q000401:mortality / Q000628:therapy*; D016030:Kidney Transplantation / Q000009:adverse effects / Q000401:mortality; D016015:Logistic Models; D008297:Male; D009404:Nephrotic Syndrome / Q000097:blood / Q000150:complications / Q000401:mortality / Q000628:therapy*; D010281:Parathyroid Hormone / Q000097:blood; D012042:Registries; D006435:Renal Dialysis / Q000009:adverse effects / Q000401:mortality; D018570:Risk Assessment; D012307:Risk Factors; D015996:Survival Rate; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; C470125:PTH protein, human; D010281:Parathyroid Hormone