Optimizing α-galactosidase A enzyme cutoff for Fabry disease screening in chronic kidney disease patients: a single-center reassessment of diagnostic yield and cost-effectiveness.

ABSTRACT: Fabry disease has been increasingly recognized in patients with chronic kidney disease (CKD). While dried blood spot (DBS) testing for α-galactosidase A (α-Gal A) activity is a common screening method, the optimal cutoff value for enzyme activity in this population remains uncertain. We retrospectively analyzed data from a Fabry disease screening program conducted between October 1, 2018, and September 31, 2023, at Taichung Veterans General Hospital. Male patients with CKD or ESKD underwent DBS α-Gal A enzyme activity testing. Patients with enzyme activity <2.0 μmol/L/hr were referred for confirmatory genetic testing. We assessed the diagnostic yield, baseline characteristics of true positive, false positive, and true negative cases, and performed receiver operating characteristic (ROC) an

SUBMITTER: Tsai SF 

PROVIDER: S-EPMC12507110 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature