Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.

ABSTRACT: Fabry disease is an X-linked lysosomal storage disorder caused by ?-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with ?-galactosidase A (enzyme replacement therapy, ERT) stabilises disease in some patients, but long term effectiveness is unclear.Renal, cardiac, and cerebral outcomes were prospectively studied in males and females with Fabry disease treated with ERT. Additionally, the occurrence of major cardiac events, stroke, end-stage renal disease and death was compared to a natural history (NH) cohort meeting treatment criteria.Of 75 patients on ERT (median treatment duration 5.2 years, range 0.05-11.0), prospective follow-up was available for 57 adult patients (30 males) and 6 adolescents. Renal function declined in males (-3.4 ml/min/1.73 m2 per year, SE 0.2; p?

SUBMITTER: Rombach SM 

PROVIDER: S-EPMC3626869 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature