The relationship between multiple plasma biomarker levels and renal disease activity in Fabry disease.

ABSTRACT:

Background

Fabry disease is a rare lysosomal storage disorder. The genotypic and phenotypic heterogeneity of the disease complicates the prediction of disease activity. This study aimed to evaluate the association between multiple plasma biomarkers and disease activity in Fabry disease.

Methods

A cross-sectional analysis was conducted involving 87 Fabry patients, 46 chronic kidney disease (CKD) patients, and 41 healthy controls. Plasma levels of KIM-1, MCP-1, YKL-40, TNFR-1, TNFR-2, and cystatin-C were measured using ELISA. eGFR was calculated using creatinine and creatinine-cystatin C-based CKD-EPI formulas. Fabry patients on renal replacement therapy were analyzed as a subgroup. Primary analyses focused on 62 Fabry patients receiving enzyme replacement therapy.

Results<

SUBMITTER: Ozcan SG 

PROVIDER: S-EPMC12105367 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature