Abstract
Fabry's disese is a rare, hereditary metabolic disease from the lysosomal storage disease group, resulting from a mutation to the gene for the alpha-galactosidase A enzyme, which is located on the X chromosome. It manifests by accumulation of globotriaosylceramide, followed by hypertrophic cardiomyopathy, kidney failure, damage to both peripheral and central nervous system, skin, eyes and other organs.
Diagnosis is made on the basis of family history, clinical picture, low activity of alpha-galactosidase in the plasma or leukocytes and confirmed by a molecular genetic examination. In men, dry blood spot test can be used as a screening method.
Diagnosis however often comes late, because due to its rarity, it rarely occurs to physicians to look for Fabry's disease. Kidney damage usually starts with micro-albuminuria, progressing to proteinuria and gradually decreasing renal function.
Renal failure usually occurs in the 4th decennium. A specific enzymesubstitution therapy is available for this disease, with intravenous application of the missing enzyme once every two weeks.
Clinical studies have shown good effects, if the therapy was started before irreversible damage developed.