Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease

摘要

Background. Fabry disease (FD) is caused by an X-linked deficiency in the activity of α-galactosidase A and the resultant accumulation of globotriaosylceramide (Gb₃) in multiple tissues. Nearly all classically affected males with FD experience kidney dysfunction, with progression to end-stage renal disease (ESRD) in the third decade of life or shortly thereafter.