{"id":8768,"date":"2025-06-27T14:54:45","date_gmt":"2025-06-27T13:54:45","guid":{"rendered":"https:\/\/www.library.sath.nhs.uk\/research\/?p=8768"},"modified":"2025-07-28T15:42:10","modified_gmt":"2025-07-28T14:42:10","slug":"fabry-disease-in-the-haemodialysis-population-outcome-of-a-uk-screening-study-sofah-2025","status":"publish","type":"post","link":"https:\/\/www.library.sath.nhs.uk\/research\/2025\/06\/27\/fabry-disease-in-the-haemodialysis-population-outcome-of-a-uk-screening-study-sofah-2025\/","title":{"rendered":"Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH) (2025)"},"content":{"rendered":"\n<p><strong>Type of publication:<\/strong><\/p>\n\n\n\n<p>Journal article<\/p>\n\n\n\n<p><strong>Author(s):<\/strong><\/p>\n\n\n\n<p>Ng, K P; Sandhu, M; Banerjee, D; Burton, J O; Crowley, L; Doulton, T; Hameed, M A; Hamer, R; Menon, M; *Nicholas, J; Ramakrishna, S B; Shivakumar, K; Geberhiwot, T; Dasgupta, I.<\/p>\n\n\n\n<p><strong>Citation:<\/strong><\/p>\n\n\n\n<p>BMC Nephrology. 26(1):259, 2025 May 26.<\/p>\n\n\n\n<p><strong>Abstract:<\/strong><\/p>\n\n\n\n<p>BACKGROUND AND HYPOTHESIS: Fabry 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.<\/p>\n\n\n\n<p>METHODS: This 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 (&lt;= 2.8 micromol\/L\/H) or Lyso-Gb3 (&gt;= 3.5 ng\/mL) level was abnormal, genetic testing for GLA variant was performed. All females had AG, Lyso-GB3 and genetic tests.<\/p>\n\n\n\n<p>RESULTS: In 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 &lt;= 2.8 micromol\/L\/H, 48 were female and 138 were male, all of whom had Lyso-Gb3 &lt; 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 &gt; T (p.(Asp313Tyr) and heterozygous c.1102G &gt; A (p.(Ala368Thr)).<\/p>\n\n\n\n<p>CONCLUSIONS: Despite the implementation of stringent screening criteria, we did not identify any new confirmed cases of Fabry disease in this large UK haemodialysis population.<\/p>\n\n\n\n<p><strong>DOI:&nbsp;<\/strong>10.1186\/s12882-025-04127-x<\/p>\n\n\n\n<p><a href=\"https:\/\/bmcnephrol.biomedcentral.com\/articles\/10.1186\/s12882-025-04127-x\" data-type=\"link\" data-id=\"https:\/\/bmcnephrol.biomedcentral.com\/articles\/10.1186\/s12882-025-04127-x\">Link to full-text<\/a> [open access - no password required]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Type of publication: Journal article Author(s): Ng, K P; Sandhu, M; Banerjee, D; Burton, J O; Crowley, L; Doulton, T; Hameed, M A; Hamer, R; Menon, M; *Nicholas, J; Ramakrishna, S B; Shivakumar, K; Geberhiwot, T; Dasgupta, I. Citation: BMC<span class=\"ellipsis\">&hellip;<\/span><\/p>\n<div class=\"read-more\"><a href=\"https:\/\/www.library.sath.nhs.uk\/research\/2025\/06\/27\/fabry-disease-in-the-haemodialysis-population-outcome-of-a-uk-screening-study-sofah-2025\/\">Read more <span class=\"screen-reader-text\">Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH) (2025)<\/span><span class=\"meta-nav\"> &#8250;<\/span><\/a><\/div>\n<p><!-- end of .read-more --><\/p>\n","protected":false},"author":12,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[1001,200],"tags":[1085,1002,298,854],"class_list":["post-8768","post","type-post","status-publish","format-standard","hentry","category-open-access","category-staff-publication","tag-1085","tag-gold-open-access","tag-nephrology","tag-renal"],"_links":{"self":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/8768","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/users\/12"}],"replies":[{"embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/comments?post=8768"}],"version-history":[{"count":5,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/8768\/revisions"}],"predecessor-version":[{"id":8804,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/8768\/revisions\/8804"}],"wp:attachment":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/media?parent=8768"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/categories?post=8768"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/tags?post=8768"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}