Proteomics for the study of new biomarkers in Fabry disease: State of the art

Nephropathy represents a major complication of Fabry Disease and its accurate characterization is of paramount importance in predicting the disease progression and assessing the therapeutic responses. The diagnostic process still relies on performing renal biopsy, nevertheless many efforts have been made to discover early reliable biomarkers allowing us to avoid invasive procedures. In this field, proteomics offers a sensitive and fast method leading to an accurate detection of specific pathological proteins and the discovery of diagnostic and prognostic biomarkers that reflect disease progression and facilitate the evaluation of therapeutic responses. Here, we report a review of selected literature focusing on the investigation of several proteomic techniques highlighting their advantages, limitations and future perspectives in their application in the routine study of Fabry Nephropathy.

Automated summary

Nephropathy is a major complication of Fabry Disease, and accurate characterization of it is crucial for predicting disease progression and assessing therapeutic responses. Proteomics offers a sensitive and fast method to detect specific pathological proteins, discover diagnostic and prognostic biomarkers reflecting disease progression, and facilitate the evaluation of therapeutic responses.