Fabry Disease, is a rare, inherited genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A (α-Gal A). This enzyme is responsible for breaking down a fatty substance called globotriaosylceramide (GL-3). When the enzyme is deficient or absent, GL-3 accumulates in various cells throughout the body, leading to a range of symptoms and organ damage. Deposition of GL-3 in the form of lipid inclusions occurs in various nephron cells, including podocytes, glomerular endothelial cells, mesangial cells, and tubule epithelial cells, which can be detected by morphological examination of kidney biopsies. The accumulation of GL-3 contributes to the development of local inflammation, which leads to thickening of the visceral and parietal leaves of the Bowman capsule. Pathomorphological changes in the kidneys in Fabry’s disease lead to characteristic clinical signs of the disease: proteinuria, hematuria, de creased glomerular filtration rate, up to the development of chronic kidney disease and death. Conclusion. Long-term and progressive proteinuria in young males is an indication for performing a kidney biopsy followed by morphological analysis of biopsies for the purpose of differential diagnosis of Fabry disease and nephropathies of another genesis.
Fabry Disease, genetic disease, chronic kidney disease, morphological changes in the kidney, renal glomerulus, filtration barrier.
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