ArticleBMC nephrology2025
Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH).
Article in BMC nephrology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled 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
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14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and hypothesisFabry disease (FD) is an X-linked inherited disorder with an estimated prevalence among the end-stage kidney disease (ESKD) population of 0.3% in men and 0.1% in women [1]. Due to its non-specific manifestations, FD (especially the later-onset variant) is often underdiagnosed [2]. We aimed to estimate its prevalence in a large haemodialysis (HD) population in the UK.
methodsThis is a cross-sectional, multicentre study of eight renal centres in the UK. All male participants were tested via dried blood spot alpha-galactosidase A (AG) enzyme and globotriaosylsphingosine (Lyso-Gb3) assays. If either the AG (≤ 2.8 µmol/L/H) or Lyso-Gb3 (≥ 3.5 ng/mL) level was abnormal, genetic testing for GLA variant was performed. All females had AG, Lyso-GB3 and genetic tests.
resultsIn total, 1325 consented to participate in the study. The mean age of the participants was 64 (SD 15) years, 67% were male, 64% were of white ethnicity, the duration of dialysis was 32 (IQR 56) months, and 32% underwent renal biopsy. Diabetic nephropathy (28%) was the most common cause of ESKD, whereas 21% had an unknown aetiology. A total of 1,295 had both AG and Lyso-Gb3 tests, whereas 573 had GLA genetic tests. Among the 14% (n = 186) with an AG level ≤ 2.8 µmol/L/H, 48 were female and 138 were male, all of whom had Lyso-Gb3 < 3.5 ng/mL. Only 3 (0.2%) had abnormal Lyso-Gb3 but all had normal AG and negative genetic tests. Two females were found to have likely benign, non-pathogenic GLA variants: heterozygous c.937G > T (p.(Asp313Tyr) and heterozygous c.1102G > A (p.(Ala368Thr)).
conclusionsDespite the implementation of stringent screening criteria, we did not identify any new confirmed cases of Fabry disease in this large UK haemodialysis population.
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