title: [Molecular pathology and clinical manifestations of Fabry disease].
abstract: Fabry disease is a rare, progressive lysosomal storage disorder caused by mutation in the GAL gene and an impaired function of the alpha-galactosidase A enzyme. The enzymatic defect results in the progressive accumulation of glycosphingolipids in endothelial cells, smooth muscle cells, leucocytes and fibroblasts leading to organ damage in the skin, eye, nervous system, kidney and heart. Major clinical manifestations include acroparesthesis, angiokeratoma, corneal opacities, vascular diseases of the heart, kidney, and the central nervous system. Enzyme replacement therapy has recently become available for the treatment of Fabry patients. In this review the authors describe clinical features of Fabry disease in 31 Hungarian patients. At the time of this analysis the database consisted of 31 cases (15 males, 16 females) of whom 5 have died (4 males, 1 female). The most common disease-specific manifestation was angiokeratoma in males, and eye symptoms in females. 25% of female subjects were symptom free. Genotyping was performed in all cases and disease-causing mutations were found in all families. Three new mutations were identified. Twelve patients (8 males and 4 females) are currently receiving enzyme replacement therapy.
authors.affiliation: Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen Nagyerdei krt. 98. 4012, Hungary. eva.rakoczi@gmail.com
authors.forename: Eva
authors.initials: E
authors.lastname: Rákóczi
authors.forename: Sándor
authors.initials: S
authors.lastname: Görögh
authors.forename: János
authors.initials: J
authors.lastname: Grubits
authors.forename: Melinda
authors.initials: M
authors.lastname: Erdos
authors.forename: Ferenc
authors.initials: F
authors.lastname: Garzuly
authors.forename: Katalin
authors.initials: K
authors.lastname: Hahn
authors.forename: Krisztina
authors.initials: K
authors.lastname: Bencsik
authors.forename: László
authors.initials: L
authors.lastname: Vécsei
authors.forename: Csilla
authors.initials: C
authors.lastname: Trinn
authors.forename: Eva
authors.initials: E
authors.lastname: Kristóf
authors.forename: Gábor
authors.initials: G
authors.lastname: Mogyorósy
authors.forename: Beáta
authors.initials: B
authors.lastname: Tóth
authors.forename: László
authors.initials: L
authors.lastname: Maródi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000794:Angiokeratoma / Q000209:etiology; D002545:Brain Ischemia / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D008875:Middle Aged; D011507:Proteinuria / Q000209:etiology