[Molecular pathology and clinical manifestations of Fabry disease].
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.
Rákóczi
Eva
E
Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen Nagyerdei krt. 98. 4012, Hungary. eva.rakoczi@gmail.com
Görögh
Sándor
S
Grubits
János
J
Erdos
Melinda
M
Garzuly
Ferenc
F
Hahn
Katalin
K
Bencsik
Krisztina
K
Vécsei
László
L
Trinn
Csilla
C
Kristóf
Eva
E
Mogyorósy
Gábor
G
Tóth
Beáta
B
Maródi
László
L
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