Long-term outcome of nephropathic cystinosis: a 20-year single-center experience

Pediatr Nephrol. 2010 Dec;25(12):2459-67. doi: 10.1007/s00467-010-1641-8. Epub 2010 Aug 29.


Nephropathic cystinosis (NC) is a severe disease that is complicated by early-onset chronic renal failure (CRF) and other complications related to cystine deposition in tissue. Since the 1980s, the prognosis of NC has dramatically improved after the introduction of cysteamine treatment. Limited data are available documenting improvement in prognosis. We reviewed our long-term data (follow-up 6.3-27.8 years) on 23 patients followed in the past 26 years. Overall, stage III CRF was reached at 10 years of age in >90% of patients, whereas >80% reached end-stage renal disease before the age of 14 years. Three patients died during the follow-up. Our analysis shows a clear improvement in renal outcome (p = 0.001) and linear growth (p = 0.04) in patients treated more recently. Improvement in the evolution of renal function was significantly associated with early initiation of cysteamine (p = 0.006), with the dose of cysteamine (p = 0.04), and with the use of angiotensin-converting enzyme inhibitors (p = 0.01). Nonrenal long-term complications are similar to previously reported data. Of note, 3/23 patients developed rare forms of primary tumors that were successfully treated. In conclusion, our experience shows a significant improvement in the renal and nonrenal complications of cystinosis over the past decades and highlights the importance of early diagnosis in order to initiate cysteamine as soon as possible.

MeSH terms

  • Adolescent
  • Angiotensin-Converting Enzyme Inhibitors / therapeutic use
  • Child
  • Child, Preschool
  • Cysteamine / therapeutic use*
  • Cystinosis
  • Disease Progression
  • Drug Therapy, Combination
  • Early Diagnosis
  • Fanconi Syndrome
  • Female
  • Humans
  • Infant
  • Italy
  • Kaplan-Meier Estimate
  • Kidney / drug effects*
  • Kidney / physiopathology
  • Kidney Failure, Chronic / drug therapy*
  • Kidney Failure, Chronic / etiology
  • Kidney Failure, Chronic / physiopathology
  • Logistic Models
  • Male
  • Nephrotic Syndrome / complications
  • Nephrotic Syndrome / diagnosis
  • Nephrotic Syndrome / drug therapy
  • Nephrotic Syndrome / physiopathology
  • Retrospective Studies
  • Risk Assessment
  • Risk Factors
  • Time Factors
  • Treatment Outcome


  • Angiotensin-Converting Enzyme Inhibitors
  • Cysteamine