CIN '2007 - 4o CONGRESSO DE NEFROLOGIA NA INTERNET

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Fabry disease screening in the Czech Republic haemodialysis patient population

Prof. Miroslav Merta, MD

1st Medical Faculty of Charles University and General Faculty Hospital. Prague

Abstract

Fabry disease (FD) is a rare, X - linked inherited lysosomal storage disorder, resulting from a genetic defect of lysosomal alpha-galactosidase (alpha-gal); More than 100 mutations in Xq22.1 gene locus: linkage of milder phenotypes with missense mutations (?); Systemic accumulation of globotrihexosylceramide (GL-3) in various tissues leads to multiorgan manifestations; Males exhibit full–blown disorder (milder renal/severe cardiac forms ?), females are asymptomatic carriers or develop (usually) milder forms of the disease; Recently recombinant -gal has been introduced in the treatment of FD (Replagal, Fabrazyme)

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