Marc Buchet
16 Feb 2024
With the improvements of treatments the affected children are now living into their 50s and beyond, reproductive health and fertility have become areas of increased focus.
"Nephropathic cystinosis is a rare, progressive, multisystemic lysosomal storage disorder occurring in approximately 1 in 100,000 to 200,000 live births.1-3 Cystinosis is caused by autosomal recessive inheritance.
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.
Progressive reproductive complications ultimately lead to infertility in males with cystinosis. These patients commonly experience delayed puberty; low levels of testosterone; and increased levels of gonadotropins, luteinizing hormone (LH), and follicle-stimulating hormone.
Clinicians can help instill and preserve hope for the future in patients with cystinosis and their families through candid conversations about fertility status and proactive discussions about family planning."
Read the full article at this link.
https://www.kireports.org/article/S2468-0249(23)01572-3/fulltext