ArticleJournal of inherited metabolic disease2021
Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood-testis barrier and a subtherapeutic effect of cysteamine in testis.
Article in Journal of inherited metabolic disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 7 citations in OpenAlex.
- Bridging pediatric to adult care in cystinosis: a scoping review of healthcare transition of care protocols and a roadmap for future practice.BMC nephrology · 2026Article
- Long-term outcomes in nephropathic cystinosis: a review.Pediatric nephrology (Berlin, Germany) · 2026Review
- From Cysteamine to Pepstatin A: Targeting Cathepsin D To Improve Bone Health in Cystinosis.International journal of biological sciences · 2026Article
- Addressing the psychosocial aspects of transition to adult care in patients with cystinosis.Pediatric nephrology (Berlin, Germany) · 2024Review
- Fertility Management in Cystinosis: A Clinical Perspective.Kidney international reports · 2024Review
- Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine.Human molecular genetics · 2023Article
- Fertility in Cystinosis.Cells · 2021Review
- Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood-testis barrier and a subtherapeutic effect of cysteamine in testis.Journal of inherited metabolic disease · 2021Article
Corrections and comments
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Authors and funding
20 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystinosis is an inherited metabolic disorder caused by autosomal recessive mutations in the CTNS gene leading to lysosomal cystine accumulation. The disease primarily affects the kidneys followed by extra-renal organ involvement later in life. Azoospermia is one of the unclarified complications which are not improved by cysteamine, which is the only available disease-modifying treatment. We aimed at unraveling the origin of azoospermia in cysteamine-treated cystinosis by confirming or excluding an obstructive factor, and investigating the effect of cysteamine on fertility in the Ctns
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.