Adult complications of nephropathic cystinosis: a systematic review

Rachel Nora Kasimer, Craig B. Langman*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations


While nephropathic cystinosis is classically thought of as a childhood disease, with improved treatments, patients are more commonly living into adulthood. We performed a systematic review of the literature available on what complications this population faces as it ages. Nearly every organ system is affected in cystinosis, either from the disease itself or from sequelae of kidney transplantation. While cysteamine is known to delay the onset of end-stage kidney disease, its effects on other complications of cystinosis are less well determined. More common adult-onset complications include myopathy, diabetes, and hypothyroidism. Some less common complications, such as neurologic dysfunction, can still have a profound impact on those with cystinosis. Areas for further research in this area include additional study of the impact of cysteamine on the nonrenal manifestations of cystinosis, as well as possible avenues for new and novel treatments.

Original languageEnglish (US)
Pages (from-to)223-236
Number of pages14
JournalPediatric Nephrology
Issue number2
StatePublished - Feb 2021


  • Adult complications
  • Cardiovascular disease
  • Chronic kidney disease
  • Cystinosis
  • Endocrinopathies
  • Fanconi syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology


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