ArticleJIMD reports2012
Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing.
Article in JIMD reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Genetic Assessment of Living Kidney Transplant Donors: A Survey of Canadian Practices.Canadian journal of kidney health and disease · 2025Article
- Outcomes and management of kidney transplant recipients with Fabry disease: a review.Journal of nephrology · 2024Review
- The Evolving Role of Diagnostic Genomics in Kidney Transplantation.Kidney international reports · 2022Review
- A case of latent heterozygous Fabry disease in a female living kidney donor candidate.CEN case reports · 2021Article
- Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Fabry's Disease: Case Series and Review of Literature.Annals of medical and health sciences researchArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease, an X-linked lysosomal storage disorder, is caused by the deficiency of the alpha-galactosidase A enzyme and the progressive accumulation of globotriaosylceramide in vascular endothelial cells. The multi-systemic manifestations of Fabry disease include cardiac, gastrointestinal, renal, and neuropathic complications. Renal dysfunction and ultimately end-stage renal disease occurs in classically affected males and in about 10-15% of female heterozygotes from classically affected families as a result of progressive glycosphingolipid accumulation. We report a case in which a female with a de novo GLA mutation donated a kidney to her sister prior to the diagnosis of symptomatic Fabry disease. The transplant recipient has progressed to graft failure and has been relisted for transplant. This case report demonstrates the need to screen potential kidney transplant donors and recipients for Fabry disease.
Identifiers
What OpenQuestion holds
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.