CIN '2007 - 4th CONGRESS OF NEPHROLOGY IN INTERNET
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)Comments: