ArticleSaudi medical journal2020
Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia.
Article in Saudi medical journal, 2020. 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.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.Journal of inherited metabolic disease · 2025Pooled it
- Screening for Fabry Disease Among Dialysis Patients: A Multicenter Cross-Sectional Study in Türkiye with Cascade Screening of Identified Cases.Medicina (Kaunas, Lithuania) · 2026Article
- Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction.International journal of neonatal screening · 2026Review
- Prevalence of Fabry Disease in Patients on Dialysis in France.International journal of molecular sciences · 2024Article
- Experts' Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective.Therapeutics and clinical risk management · 2024Review
- High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- 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
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo determine the prevalence of Fabry disease (FD) among Saudi patients on hemodialysis.
methodsThis prospective study was conducted in 3 major hospitals in the Kingdom of Saudi Arabia (KSA). All adult patients (greater than 18 years old) attending the dialysis unit who have end-stage renal disease (ESRD) and on hemodialysis were included. Known patients with FD and those who refused to participate in the study were excluded. All eligible patients were screened for FD using dry blood spot (DBS) for alpha-galactosidase A (α-Gal A). A positive DBS (enzyme activity less than 40%) was followed by another con rmatory enzyme assay. When the second DBS sample was also positive (enzyme activity less than 40%), a Sanger sequencing of the GLA gene was performed.
resultsA total of 619 patients with ESRD and on hemodialysis were screened for FD using DBS for α-Gal A enzyme level. Enzymatic activity was below 40% in 11 samples. On retesting, 3 females had less than 20% enzymatic activity suggesting FD. Sanger sequencing of these 3 females showed the variant c.1055C greater than G (p.Ala352Gly) confirming the diagnosis of FD. Family screening of one of these 3 patients revealed one asymptomatic female carrying the same variant.
conclusionThe prevalence of FD in this cohort was 4.8 per 1000 patients. Screening of Fabry patients with ESRD seems to be a cost-effective strategy. Furthermore, relatives of the patients identified by screening enhances this screening strategy.
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