Nephropathic cystinosis: an update

Curr Opin Pediatr. 2017 Apr;29(2):168-178. doi: 10.1097/MOP.0000000000000462.


Purpose of review: Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes.

Recent findings: In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis.

Summary: The development of alternative therapeutic monitoring strategies and new systemic and ocular cysteamine formulations might improve outcome of cystinosis patients in the near future. With the dawn of stem cell based therapy and new emerging gene-editing technologies, novel tools have become available in the search for a cure for cystinosis.

Publication types

  • Review

MeSH terms

  • Cysteamine / therapeutic use*
  • Cystinosis / diagnosis*
  • Cystinosis / therapy*
  • Female
  • Forecasting
  • Genetic Therapy / methods
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Nephrotic Syndrome / diagnosis*
  • Nephrotic Syndrome / therapy*
  • Prognosis
  • Risk Assessment
  • Severity of Illness Index
  • Stem Cell Transplantation / methods
  • Treatment Outcome


  • Cysteamine