Transcriptomic Approach in Understanding Fabry Nephropathy: A Review of the Literature and Proof-of-Concept.

ABSTRACT:

Background/objectives

Fabry nephropathy (FN) is a progressive complication of Fabry disease that significantly affects patient outcomes. However, the molecular mechanisms underlying FN are not yet fully understood. Recent advances in transcriptomics have opened new perspectives for the identification of early changes in gene expression associated with the development and progression of the disease.

Methods

This study includes a systematic review of transcriptomic findings in chronic kidney disease, with a particular focus on FN, and presents a proof-of-concept RNA sequencing analysis of peripheral blood samples from six Fabry patients with progressive nephropathy and six age- and sex-matched control subjects.

Results

The analysis identified 41 differentially expressed

SUBMITTER: Breznik N 

PROVIDER: S-EPMC12110829 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature