FABRY'S DISEASE, AS THE BRIGHT REPRESENTATIVE OF THE ACCUMULATION DISEASES (CLINICAL ASPECTS, DIAGNOSTICS AND THERAPY)
The lecture is devoted to the pathogenetic essence of the lysosome accumulation diseases by the example of Fabry's disease (Anderson-Fabry). The accumulation diseases basis consists in the defect of lysosomal enzymes, in this case, the defect (pathologically low activity) a-galactosidase A (a-GAL-A). The special attention is given to a clinical aspect of the pathology (renal, cardiological, neurologic variants of disease) and to the questions of diagnostics. As for all the accumulation diseases, at this case, the basis of therapy is life therapy of recombinant enzyme.