Fertility Management in Cystinosis: A Clinical Perspective

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

doi:10.1016/j.ekir.2023.10.030

Fertility Management in Cystinosis: A Clinical Perspective

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

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-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 language	English (US)
Pages (from-to)	214-224
Number of pages	11
Journal	Kidney International Reports
Volume	9
Issue number	2
DOIs	https://doi.org/10.1016/j.ekir.2023.10.030
State	Published - Feb 2024

Funding

ENL and AS would like to acknowledge the European Reference Network for Rare Kidney Diseases (ERKNet), of which they are members. The authors wish to thank Robert Brannigan, MD, for his expert opinion and critical review of the manuscript. The authors are also grateful to Chelsea Norman, MS, RDN, and Sarah Bueno, PharmD, of The Lockwood Group for editorial review, author coordination, and manuscript submission. The Lockwood Group’s services complied with Good Publication Practice (GPP3) guidelines. This assistance was funded by Horizon Therapeutics plc . The authors confirm independence from the sponsor; the content of the article has not been influenced by the sponsor. No authors received compensation for the preparation of this manuscript outside of normal employment obligations.

Keywords

cystinosis
extrarenal manifestations
fertility
lysosomal storage disorder
nephropathic cystinosis
reproductive health

ASJC Scopus subject areas

Nephrology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ekir.2023.10.030

Cite this

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title = "Fertility Management in Cystinosis: A Clinical Perspective",

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.",

keywords = "cystinosis, extrarenal manifestations, fertility, lysosomal storage disorder, nephropathic cystinosis, reproductive health",

author = "Langman, {Craig B.} and {Delos Santos}, {Rowena B.} and Cybele Ghossein and Atherton, {Andrea M.} and Levtchenko, {Elena N.} and Aude Servais",

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doi = "10.1016/j.ekir.2023.10.030",

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AU - Delos Santos, Rowena B.

AU - Ghossein, Cybele

AU - Atherton, Andrea M.

AU - Levtchenko, Elena N.

AU - Servais, Aude

PY - 2024/2

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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

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Fertility Management in Cystinosis: A Clinical Perspective

Abstract

Funding

Keywords

ASJC Scopus subject areas

UN SDGs

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