TY - JOUR
T1 - Fertility Management in Cystinosis
T2 - A Clinical Perspective
AU - Langman, Craig B.
AU - Delos Santos, Rowena B.
AU - Ghossein, Cybele
AU - Atherton, Andrea M.
AU - Levtchenko, Elena N.
AU - Servais, Aude
N1 - Publisher Copyright:
© 2023 International Society of Nephrology
PY - 2024/2
Y1 - 2024/2
N2 - 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.
AB - 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.
KW - cystinosis
KW - extrarenal manifestations
KW - fertility
KW - lysosomal storage disorder
KW - nephropathic cystinosis
KW - reproductive health
UR - http://www.scopus.com/inward/record.url?scp=85183786607&partnerID=8YFLogxK
U2 - 10.1016/j.ekir.2023.10.030
DO - 10.1016/j.ekir.2023.10.030
M3 - Review article
C2 - 38344731
AN - SCOPUS:85183786607
SN - 2468-0249
VL - 9
SP - 214
EP - 224
JO - Kidney International Reports
JF - Kidney International Reports
IS - 2
ER -