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.

胱氨酸贮积症是一种罕见的遗传性溶酶体贮积症，其特征是溶酶体内胱氨酸的逐渐积累以及随后的器官和组织损伤。肾脏是第一个也是受影响最严重的器官。尽管胱氨酸中毒曾经被认为是一种致命的儿科疾病，但随着医疗保健的进步，包括肾移植和早期持续使用半胱胺治疗，胱氨酸中毒患者可以活到成年。预期寿命的增加揭示了胱氨酸病的肾外表型，这种病出现在青春期和成年期，几乎影响所有身体系统，包括内分泌和生殖系统。随着胱氨酸病患者为未来做计划，生殖健康和生育力已成为人们日益关注的领域。本叙述性综述旨在总结当前对胱氨酸病患者生殖健康和生育力的理解，并讨论监测和管理这些并发症的实际注意事项。