Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

ABSTRACT:

Objectives

Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease.

Methods

The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h.

Results

A total of 1453 chronic k

SUBMITTER: Yenicerioglu Y 

PROVIDER: S-EPMC6014365 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature