Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

Kidney Int. 2012 Jan;81(2):179-89. doi: 10.1038/ki.2011.277. Epub 2011 Sep 7.

Abstract

Nephropathic cystinosis is a multisystem autosomal recessive disease caused by cystine accumulation, which is usually treated by oral cysteamine. In order to determine long-term effects of this therapy, we enrolled 86 adult patients (mean age 26.7 years) diagnosed with nephropathic cystinosis, 75 of whom received cysteamine. Therapy was initiated at a mean age of 9.9 years with a mean duration of 17.4 years. By last follow-up, 78 patients had end-stage renal disease (mean age 11.1 years), 62 had hypothyroidism (mean age 13.4), 48 developed diabetes (mean age 17.1 years), and 32 had neuromuscular disorders (mean age 23.3 years). Initiating cysteamine therapy before 5 years of age significantly decreased the incidence and delayed the onset of end-stage renal disease, and significantly delayed the onset of hypothyroidism, diabetes, and neuromuscular disorders. The development of diabetes and hypothyroidism was still significantly delayed, however, in patients in whom therapy was initiated after 5 years of age, compared with untreated patients. The life expectancy was significantly improved in cysteamine-treated versus untreated patients. Thus, cysteamine decreases and delays the onset of complications and improves life expectancy in cystinosis. Hence, cysteamine therapy should be introduced as early as possible during childhood and maintained lifelong.

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Amino Acid Transport Systems, Neutral / genetics
  • Child
  • Child, Preschool
  • Cysteamine / adverse effects
  • Cysteamine / therapeutic use*
  • Cystinosis / complications
  • Cystinosis / drug therapy*
  • Cystinosis / genetics
  • Diabetes Complications / complications
  • Disease Progression*
  • Educational Status
  • Employment
  • Fanconi Syndrome
  • Female
  • Follow-Up Studies
  • Humans
  • Hypothyroidism / complications
  • Infant
  • Kaplan-Meier Estimate
  • Kidney Failure, Chronic / etiology
  • Male
  • Middle Aged
  • Nephrotic Syndrome / complications
  • Nephrotic Syndrome / drug therapy*
  • Nephrotic Syndrome / genetics
  • Nervous System Diseases / complications
  • Neuromuscular Diseases / complications
  • Radiation-Protective Agents / adverse effects
  • Radiation-Protective Agents / therapeutic use*
  • Young Adult

Substances

  • Amino Acid Transport Systems, Neutral
  • CTNS protein, human
  • Radiation-Protective Agents
  • Cysteamine