AUTHOR=Rozenfeld Paula , Feriozzi Sandro , Braun Fabian 

TITLE=The role of tubular cells in the pathogenesis of Fabry nephropathy

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=Volume 11 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2024.1386042

DOI=10.3389/fcvm.2024.1386042

ISSN=2297-055X

ABSTRACT=The pathophysiology of Fabry nephropathy (FN) is induced by GLA deficiency with chronic exposure of glycolipids to every lineage of renal cells. Tissue damage is attributed to activation of molecular pathways resulting in tissue fibrosis and chronic kidney disease. Podocytes have been the primary focus in clinical pathophysiological research, due to striking accumulation of large glycolipid deposits observable in histology. Yet, the tubular interstitium makes up a large portion of the whole organ, so its role must be further considered in the pathogenic processes.With this review, we would like to propose Fabry tubulopathy and the ensuing functional effects as first pathological signs and contributing factors to the development of FN. We will summarize and discuss the current literature regarding the role of tubular cells in Fabry kidney pathophysiology. Starting from clinical and histological evidence, we will highlight the data from animal models and cell cultures outlining the pathophysiological pathways associated with tubular interstitial injury causing renal fibrosis in Fabry nephropathy.