Fertility Management in Cystinosis: A Clinical Perspective
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, p...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-02-01
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| Series: | Kidney International Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2468024923015723 |
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| author | Craig B. Langman Rowena B. Delos Santos Cybele Ghossein Andrea M. Atherton Elena N. Levtchenko Aude Servais |
| author_facet | Craig B. Langman Rowena B. Delos Santos Cybele Ghossein Andrea M. Atherton Elena N. Levtchenko Aude Servais |
| author_sort | Craig B. Langman |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7cba2170dbc24749ae64d388b6e1892e |
| institution | OA Journals |
| issn | 2468-0249 |
| language | English |
| publishDate | 2024-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Kidney International Reports |
| spelling | doaj-art-7cba2170dbc24749ae64d388b6e1892e2025-08-20T02:05:49ZengElsevierKidney International Reports2468-02492024-02-019221422410.1016/j.ekir.2023.10.030Fertility Management in Cystinosis: A Clinical PerspectiveCraig B. Langman0Rowena B. Delos Santos1Cybele Ghossein2Andrea M. Atherton3Elena N. Levtchenko4Aude Servais5Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Correspondence: Craig B. Langman, Feinberg School of Medicine, Northwestern University, 211 E Chicago Ave, MS37, Chicago, Illinois 60611, USA.Washington University in St Louis, St Louis, Missouri, USAFeinberg School of Medicine, Northwestern University, Chicago, Illinois, USAHorizon Therapeutics plc, Deerfield, Illinois, USAAmsterdam University Medical Centre, Amsterdam, The NetherlandsNecker Enfants Malades University Hospital, APHP; Imagine Institute, Paris, FranceCystinosis 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.http://www.sciencedirect.com/science/article/pii/S2468024923015723cystinosisextrarenal manifestationsfertilitylysosomal storage disordernephropathic cystinosisreproductive health |
| spellingShingle | Craig B. Langman Rowena B. Delos Santos Cybele Ghossein Andrea M. Atherton Elena N. Levtchenko Aude Servais Fertility Management in Cystinosis: A Clinical Perspective Kidney International Reports cystinosis extrarenal manifestations fertility lysosomal storage disorder nephropathic cystinosis reproductive health |
| title | Fertility Management in Cystinosis: A Clinical Perspective |
| title_full | Fertility Management in Cystinosis: A Clinical Perspective |
| title_fullStr | Fertility Management in Cystinosis: A Clinical Perspective |
| title_full_unstemmed | Fertility Management in Cystinosis: A Clinical Perspective |
| title_short | Fertility Management in Cystinosis: A Clinical Perspective |
| title_sort | fertility management in cystinosis a clinical perspective |
| topic | cystinosis extrarenal manifestations fertility lysosomal storage disorder nephropathic cystinosis reproductive health |
| url | http://www.sciencedirect.com/science/article/pii/S2468024923015723 |
| work_keys_str_mv | AT craigblangman fertilitymanagementincystinosisaclinicalperspective AT rowenabdelossantos fertilitymanagementincystinosisaclinicalperspective AT cybeleghossein fertilitymanagementincystinosisaclinicalperspective AT andreamatherton fertilitymanagementincystinosisaclinicalperspective AT elenanlevtchenko fertilitymanagementincystinosisaclinicalperspective AT audeservais fertilitymanagementincystinosisaclinicalperspective |