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Zhang et al. J Transl Genet Genom 2024;8:302-11 Journal of Translational
DOI: 10.20517/jtgg.2024.39
Genetics and Genomics

Review Open Access

Fabry nephropathy: focus on podocyte damage and
therapeutic target

2
1
Dan Zhang , Kenan Xie , Jiong Zhang 2
1
Department of Nephrology, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221002, Jiangsu, China.
2
National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002,
Jiangsu, China.
Correspondence to: Prof. Jiong Zhang, National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University
School of Medicine, #305 East Zhong Shan Road, Nanjing 210002, Jiangsu, China. E-mail: jiongzhang@live.com

How to cite this article: Zhang D, Xie K, Zhang J. Fabry nephropathy: focus on podocyte damage and therapeutic target. J Transl
Genet Genom 2024;8:302-11. https://dx.doi.org/10.20517/jtgg.2024.39

Received: 25 Jul 2024 First Decision: 22 Aug 2024 Revised: 11 Sep 2024 Accepted: 23 Sep 2024 Published: 30 Sep 2024
Academic Editor: Sanjay Gupta Copy Editor: Fangling Lan Production Editor: Fangling Lan

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

INTRODUCTION
Fabry disease (FD) is an inherited X-linked lysosomal storage disorder resulting from mutations in the GLA

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