Frequency of Fabry disease in chronic kidney disease patients including patients on renal replacement therapy in Korea.

ABSTRACT:

Background

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase (α-Gal A), affecting multiple organs including kidney. In this study, we aimed to determine the prevalence of FD in patients with chronic kidney disease (CKD) including those on renal replacement therapy in Korea.

Methods

This is a national, multicenter, observational study performed between August 24, 2017 and February 28, 2020. Patients with the presence of proteinuria or treated on dialysis were screened by measuring the α-Gal A enzyme activity using either dried blood spot or whole blood, and plasma globotriaosylsphingosine (lyso-GL3) concentration. A GLA gene analysis was performed in patients with low α-Gal A enzyme activity or increased plasma ly

SUBMITTER: Cho E 

PROVIDER: S-EPMC10846989 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature