title: Results of a nationwide screening for Anderson-Fabry disease among dialysis patients.
abstract: Anderson-Fabry disease is possibly underdiagnosed in patients with end-stage renal disease. Nationwide screening was therefore undertaken for Anderson-Fabry disease among dialysis patients in Austria. Screening for alpha-galactosidase A (AGAL) deficiency was performed by a blood spot test. In patients with a positive screening test, AGAL activity in leukocytes was determined. Individuals with decreased leukocyte AGAL activity were subjected to mutation testing in the GLA gene. Fifty (90.9%) of 55 Austrian hemodialysis centers participated in this study; 2480 dialysis patients (80.1% of the Austrian dialysis population) were screened. In 85 patients, the screening test was positive (85 of 2480, 3.42%; women, 3.32%; men, 3.50%). Among these 85 patients, 4 men (in 3 of whom Anderson-Fabry disease was already known before screening) had a severely decreased and 11 subjects had a borderline low AGAL activity. Genetic testing revealed mutations associated with Fabry disease in all four men with severely decreased AGAL activity resulting in a prevalence of 0.161% for the entire study population. A nationwide screening of dialysis patients permitted detection of a hitherto unknown man with Anderson-Fabry disease. The overall prevalence among dialysis patients was at least ten times higher as compared with recent registry data. Screening programs among patients with end-stage renal disease, especially men, should be put in place to identify families with Anderson-Fabry disease who probably may benefit from specific clinical care, and perhaps from enzyme replacement therapy. In dialysis patients, however, there is no evidence to support enzyme replacement therapy at present.
authors.affiliation: Krankenhaus der Barmherzigen Brüder, Teaching Hospital of the Karl Franzens University Graz, Department of Internal Medicine, Graz, Austria.
authors.forename: Peter
authors.initials: P
authors.lastname: Kotanko
authors.forename: Reinhard
authors.initials: R
authors.lastname: Kramar
authors.forename: Danijela
authors.initials: D
authors.lastname: Devrnja
authors.forename: Eduard
authors.initials: E
authors.lastname: Paschke
authors.forename: Till
authors.initials: T
authors.lastname: Voigtländer
authors.forename: Martin
authors.initials: M
authors.lastname: Auinger
authors.forename: Severo
authors.initials: S
authors.lastname: Pagliardini
authors.forename: Marco
authors.initials: M
authors.lastname: Spada
authors.forename: Klaus
authors.initials: K
authors.lastname: Demmelbauer
authors.forename: Matthias
authors.initials: M
authors.lastname: Lorenz
authors.forename: Anna-Christine
authors.initials: AC
authors.lastname: Hauser
authors.forename: Hans-Jörg
authors.initials: HJ
authors.lastname: Kofler
authors.forename: Karl
authors.initials: K
authors.lastname: Lhotta
authors.forename: Ulrich
authors.initials: U
authors.lastname: Neyer
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Pronai
authors.forename: Manfred
authors.initials: M
authors.lastname: Wallner
authors.forename: Clemens
authors.initials: C
authors.lastname: Wieser
authors.forename: Martin
authors.initials: M
authors.lastname: Wiesholzer
authors.forename: Herbert
authors.initials: H
authors.lastname: Zodl
authors.forename: Manuela
authors.initials: M
authors.lastname: Födinger
authors.forename: Gere
authors.initials: G
authors.lastname: Sunder-Plassmann
mesh_terms: D000368:Aged; D001317:Austria; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000628:therapy; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D006435:Renal Dialysis; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase