ArticleJIMD reports2019
Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.
Article in JIMD reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- A Systematic Literature Review on the Use of Dried Biofluid Microsampling in Patients With Kidney Disease.Journal of clinical laboratory analysis · 2024Pooled it
- Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure · 2026Review
- A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.Molecular genetics & genomic medicine · 2025Review
- Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards.Molecular genetics and metabolism reports · 2025Review
- Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.JIMD reports · 2025Article
- Prevalence of Fabry Disease in Patients on Dialysis in France.International journal of molecular sciences · 2024Article
- Outcomes and management of kidney transplant recipients with Fabry disease: a review.Journal of nephrology · 2024Review
- Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.JIMD reports · 2024Article
- The prevalence of Fabry disease in a Turkish population with chronic kidney patients.International urology and nephrology · 2023Article
- Article
- High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team.Biomedicines · 2020Article
- Rare inherited kidney diseases: an evolving field in Nephrology.Jornal brasileiro de nefrologia · 2020Article
- Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.JIMD reports · 2019Article
- Screening for Fabry disease in patients on Hemodialysis.International journal of applied & basic medical researchArticle
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease (FD) is an X-linked lysosomal storage disorder caused by enzyme Alpha-Galactosidase A (α-Gal-A) deficiency, due mutations in GLA gene. Progressive glycolipid accumulation leads to damage in kidney and other organs. The aim of this study was to estimate the prevalence of Fabry disease in Argentinean male patients undergoing dialysis.
methodsA prospective screening study was carried out measuring the α-Gal-A activity in dried blood spot (DBS) samples of male patients undergoing dialysis from Argentina. Those patients in which DBS α-Gal-A level was low (<4.0 μmol/hr/L), underwent GLA genetic testing for diagnosis confirmation.
resultsNine thousand six hundred and four dialysis male patients from 264 centers distributed over 20 of the 23 provinces of Argentina were investigated. Twenty-four patients showed a decreased or absent α-Gal-A activity in DBS and although genetic analysis found a variant in the GLA gene in every one of these patients, we could confirm FD diagnosis in 22 cases.
conclusionThe prevalence rate of FD found in Argentinean male dialysis patients was 0.23%. Classic phenotype was observed in 73% of patients, whereas the remaining 27% presented as late-onset variant. This was the largest study carried out in dialysis patients from a same country at a worldwide level and the first study performed in Argentina.
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