The role of tubular cells in the pathogenesis of Fabry nephropathy

Abstract

The pathophysiology of Fabry nephropathy (FN) is induced by galactosidase Adeficiency with a chronic exposure of glycolipids to every lineage of renalcells. Tissue damage is attributed to the activation of molecular pathways,resulting in tissue fibrosis and chronic kidney disease. Podocytes have beenthe primary focus in clinical pathophysiological research because of thestriking accumulation of large glycolipid deposits observable in histology. Yet,the tubular interstitium makes up a large portion of the whole organ, andtherefore, its role must be further considered in pathogenic processes. In thisreview, we would like to propose Fabry tubulopathy and its ensuing functionaleffects as the first pathological signs and contributing factors to thedevelopment of FN. We will summarize and discuss the current literatureregarding the role of tubular cells in Fabry kidney pathophysiology. Startingfrom clinical and histological evidence, we will highlight the data from animalmodels and cell cultures outlining the pathophysiological pathways associatedwith tubular interstitial injury causing renal fibrosis in Fabry nephropathy.