title: [Diagnosis of Fabry disease: usefulness of the clinical investigation].
abstract: Fabry disease, an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency, leads to an accumulation of globotriaosylceramide resulting in a multisystemic disorder. The initial manifestations of the disease are not specific, leading to a delayed diagnosis. We report a patient in whom the diagnosis was obtained by family screening and the confrontation of clinical signs. We also present a 4 year follow-up under enzyme replacement therapy (agalsidase β, 1 mg/kg/14 days).
authors.affiliation: Service de néphrologie-hémodialyse, Centre hospitalier Laennec, Boulevard Laennec, 60100 Creil, France. renato.demontis@ch-creil.fr
authors.forename: R
authors.initials: R
authors.lastname: Demontis
mesh_terms: D015415:Biomarkers / Q000097:blood / Q000652:urine; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D005500:Follow-Up Studies; D005820:Genetic Testing; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D008297:Male; D008487:Medical History Taking; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D051436:Renal Insufficiency, Chronic / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D016896:Treatment Outcome; D014281:Trihexosylceramides / Q000652:urine; D000519:alpha-Galactosidase / Q000097:blood / Q000627:therapeutic use
chemical_list: D015415:Biomarkers; D007527:Isoenzymes; D014281:Trihexosylceramides; C018549:globotriaosylceramide; D000519:alpha-Galactosidase; C459420:agalsidase beta