Renal Manifestations of Fabry Disease: A Narrative Review

Purpose of review: In this narrative review, we describe general aspects, histological alterations, treatment, and implications of Fabry disease (FD) nephropathy. This information should be used to guide physicians and patients in a shared decision-making process. Source of information: Original peer-reviewed articles, review articles, and opinion pieces were identified from PubMed and Google Scholar databases. Only sources in English were accessed. Methods: We performed a focused narrative review assessing the main aspects of FD nephropathy. The literature was critically analyzed from a theoretical and contextual perspective, and thematic analysis was performed. Key findings: FD nephropathy is related to the progressive accumulation of GL3, which occurs in all types of renal cells. It is more prominent in podocytes, which seem to play an important role in the pathogenesis of this nephropathy. A precise detection of renal disorders is of fundamental importance because the specific treatment of FD is usually delayed, making reversibility unlikely and leading to a worse prognosis. Limitations: As no formal tool was applied to assess the quality of the included studies, selection bias may have occurred. Nonetheless, we have attempted to provide a comprehensive review on the topic using current studies from experts in FD and extensive review of the literature.

Automated summary

This narrative review provides an overview of Fabry disease (FD) nephropathy, highlighting the importance of early detection of renal disorders for timely treatment and better prognosis. The review also emphasizes the role of podocytes in the pathogenesis of this nephropathy, as well as the challenges in specific treatment of FD due to delayed diagnosis.