Improvement in the Renal Prognosis in Nephropathic Cystinosis

Clin J Am Soc Nephrol. 2011 Oct;6(10):2485-91. doi: 10.2215/CJN.02000311. Epub 2011 Aug 25.

Abstract

Background and objectives: 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.

Design, setting, participants, & measurements: 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.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / blood
  • Case-Control Studies
  • Child
  • Cystinosis / blood
  • Cystinosis / complications
  • Cystinosis / mortality
  • Cystinosis / therapy*
  • Disease Progression
  • Europe / epidemiology
  • Fanconi Syndrome
  • Female
  • Graft Survival
  • Growth Disorders / etiology
  • Humans
  • Hypertension / etiology
  • Kaplan-Meier Estimate
  • Kidney Failure, Chronic / blood
  • Kidney Failure, Chronic / etiology
  • Kidney Failure, Chronic / mortality
  • Kidney Failure, Chronic / therapy*
  • Kidney Transplantation* / adverse effects
  • Kidney Transplantation* / mortality
  • Logistic Models
  • Male
  • Nephrotic Syndrome / blood
  • Nephrotic Syndrome / complications
  • Nephrotic Syndrome / mortality
  • Nephrotic Syndrome / therapy*
  • Parathyroid Hormone / blood
  • Registries
  • Renal Dialysis* / adverse effects
  • Renal Dialysis* / mortality
  • Risk Assessment
  • Risk Factors
  • Survival Rate
  • Time Factors
  • Treatment Outcome

Substances

  • Biomarkers
  • PTH protein, human
  • Parathyroid Hormone