Fabry nephropathy: focus on podocyte damage and therapeutic target

Abstract

Fabry disease, a rare X-linked lysosomal storage disorder, is marked by a deficiency in the activity of the enzyme α-galactosidase A. This deficiency results in the accumulation of globotriaosylceramide (Gb3) within various tissues and organs, which leads to life-threatening complications and poor prognosis. Clinical manifestations are multisystemic, heterogeneous, and progressive. Early diagnosis and treatment are of great importance. Fabry nephropathy lesions are characterized by a cell vacuolization of glomeruli, tubules, interstitium, and arteries and by ultrastructural myelin bodies. Kidney injury can occur in various structures, with the podocytes being the first to be impacted due to their low regeneration and extensive exposure to Gb3. The accumulation of Gb3 causes injury to podocytes, which are essential components of glomerular cells, responsible for maintaining the integrity of the glomerular filtration barrier. Enzyme replacement therapy, dynamic monitoring of podocyte injury, and research on the repair and regeneration mechanism of podocyte injury will contribute to the overall treatment of kidney damage in Fabry disease and improve the renal prognosis.

Keywords

Fabry nephropathy / podocyte / treatment / regeneration

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