Fertility Management in Cystinosis: A Clinical Perspective

Craig B. Langman, Rowena B. Delos Santos, Cybele Ghossein, Andrea M. Atherton, Elena N. Levtchenko, Aude Servais

Research output: Contribution to journalReview articlepeer-review

Abstract

Cystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ. Although cystinosis was once considered a fatal pediatric disease, patients with cystinosis are living well into adulthood with advances in medical care, including kidney transplant and early and continuous use of cysteamine therapy. This increase in life expectancy has revealed an extrarenal phenotype of cystinosis that emerges in adolescence and adulthood, affecting nearly all body systems, including the endocrine and reproductive systems. As individuals with cystinosis are planning for the future, reproductive health and fertility have become areas of increased focus. This narrative review aims to summarize the current understanding of reproductive health and fertility in patients with cystinosis and discuss practical considerations for monitoring and managing these complications.

Original languageEnglish
Pages (from-to)214-224
Number of pages11
JournalKidney International Reports
Volume9
Issue number2
DOIs
StatePublished - Feb 2024

Keywords

  • cystinosis
  • extrarenal manifestations
  • fertility
  • lysosomal storage disorder
  • nephropathic cystinosis
  • reproductive health

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