{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T12:58:47Z","timestamp":1777640327730,"version":"3.51.4"},"reference-count":75,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T00:00:00Z","timestamp":1726790400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sanofi","award":["ISS 69HCL16_0536"],"award-info":[{"award-number":["ISS 69HCL16_0536"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Numerous prevalence studies on Fabry disease (FD, OMIM #301500) have been conducted in dialysis populations across the world with variable and controversial results. The FABRYDIAL study aimed to estimate the prevalence of FD in patients aged 18 to 74 years on chronic dialysis in France. This cross-sectional study was conducted in patients undergoing dialysis. One hundred and twenty-four dialysis centers participated. Patients with proven causes of nephropathy unrelated to FD were excluded. Alpha-galactosidase A activity was assayed in men, and both \u03b1-galactosidase A and lyso-Gb3 were assayed in women from dried blood spots. GLA gene sequencing was performed in case of abnormal values. If a variant was identified, a diagnosis validation committee was consulted for adjudication. Among the 6032 targeted patients, 3088 were included (73.6% of the eligible patients). Biochemical results were available for 2815 (1721 men and 1094 women). A genetic variant of GLA was identified in five patients: a benign c.937G&gt;T\/p.(Asp313Tyr) variant in two individuals, a likely benign c.427G&gt;A\/(p.Ala143Thr) variant, a likely benign c.416A&gt;G\/(p.Asn139Ser) variant, and a pathogenic c.1185dupG\/p.Phe396Glyfs variant. Among the screened patients, the prevalence was 0.058% [0.010;0.328] in males, 0% [0.000;0.350] in females, and 0.035% [0.006;0.201] when both genders were pooled. Among all patients aged 18\u201374 years undergoing dialysis without a previously known cause of nephropathy unlinked to FD, the prevalence was 0.028% [0.006;0.121]. The prevalence of FD in a cohort of French dialysis patients was low. However, considering the prognostic impact of earlier diagnosis, signs of FD should be sought in patients with nephropathies of uncertain etiology.<\/jats:p>","DOI":"10.3390\/ijms251810104","type":"journal-article","created":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T04:31:23Z","timestamp":1726806683000},"page":"10104","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prevalence of Fabry Disease in Patients on Dialysis in France"],"prefix":"10.3390","volume":"25","author":[{"given":"Florence","family":"Sens","sequence":"first","affiliation":[{"name":"Service de N\u00e9phrologie et d\u2019Explorations Fonctionnelles, H\u00f4pital Edouard Herriot, Hospices Civils de Lyon, F-69003 Lyon, France"},{"name":"UMR Inserm 1060, Universit\u00e9 Claude Bernard Lyon 1, F-69621 Villeurbanne, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laure","family":"Guittard","sequence":"additional","affiliation":[{"name":"Service Recherche et Epid\u00e9miologie Cliniques, P\u00f4le Sant\u00e9 Publique, Hospices Civils de Lyon, F-69002 Lyon, France"},{"name":"Research on Healthcare Performance (RESHAPE), Inserm U1290, Universit\u00e9 Claude Bernard Lyon, F-69373 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8115-7303","authenticated-orcid":false,"given":"Bertrand","family":"Knebelmann","sequence":"additional","affiliation":[{"name":"Service de N\u00e9phrologie, H\u00f4pital Necker, Assistance Publique H\u00f4pitaux de Paris, Universit\u00e9 de Paris, F-75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivier","family":"Moranne","sequence":"additional","affiliation":[{"name":"Service N\u00e9phrologie-Dialyse-Apherese, H\u00f4pital Universitaire Caremeau, IDESP Universit\u00e9 de Montpellier, F-30029 N\u00eemes, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Choukroun","sequence":"additional","affiliation":[{"name":"Service de N\u00e9phrologie, M\u00e9decine Interne, Dialyse et Transplantation, CHU Amiens, F-80054 Amiens, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"de Pr\u00e9cigout","sequence":"additional","affiliation":[{"name":"Service de N\u00e9phrologie, H\u00f4pital Pellegrin, CHU Bordeaux, F-33076 Bordeaux, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9273-660X","authenticated-orcid":false,"given":"C\u00e9cile","family":"Couchoud","sequence":"additional","affiliation":[{"name":"Coordination Nationale R\u00e9seau Epid\u00e9miologique et Information en N\u00e9phrologie, Agence de la Biom\u00e9decine, F-93212 Saint-Denis-La-Plaine, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Deleruyelle","sequence":"additional","affiliation":[{"name":"Service Recherche et Epid\u00e9miologie Cliniques, P\u00f4le Sant\u00e9 Publique, Hospices Civils de Lyon, F-69002 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00e9a","family":"Lancelot","sequence":"additional","affiliation":[{"name":"Service Recherche et Epid\u00e9miologie Cliniques, P\u00f4le Sant\u00e9 Publique, Hospices Civils de Lyon, F-69002 Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li\u00ean","family":"Tran Thi Phuong","sequence":"additional","affiliation":[{"name":"\u201cGeneo\u201d Referral Center for Fabry Disease and Lysosomal Diseases, MetabERN European Reference Network, F-92380 Garches, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Ghafari","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, APHP\u2014Paris Saclay University, F-92380 Garches, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"FABRYDIAL Study Group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Juillard","sequence":"additional","affiliation":[{"name":"Service de N\u00e9phrologie et d\u2019Explorations Fonctionnelles, H\u00f4pital Edouard Herriot, Hospices Civils de Lyon, F-69003 Lyon, France"},{"name":"UMR Inserm 1060, Universit\u00e9 Claude Bernard Lyon 1, F-69621 Villeurbanne, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8355-007X","authenticated-orcid":false,"given":"Dominique P.","family":"Germain","sequence":"additional","affiliation":[{"name":"\u201cGeneo\u201d Referral Center for Fabry Disease and Lysosomal Diseases, MetabERN European Reference Network, F-92380 Garches, France"},{"name":"Division of Medical Genetics, APHP\u2014Paris Saclay University, F-92380 Garches, France"},{"name":"Division of Medical Genetics, University of Versailles, F-78180 Montigny, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J. 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