FABRY'S DISEASE


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Abstract

Fabry’s disease is a polysystemic pathology caused by the genetic defect of the α-galactosidase A gene, which has an X-linked inheritance pattern. Clinical manifestations of the disease are associated with the progressive accumulation of glycosphingolipids (globotriosylceramide - Gb3) in cells of renal glomeruli and tubules, cardiomyocytes, cardiac fibroblasts, neurons, vegetative ganglia, endothelium, striated and smooth muscle cells resulting in the development of multisystem organ failure. In Fabry’s disease, heterozygous women may either not have clinical manifestations of the disease, or, on the contrary, suffer as hard as hemizygotic men. Diagnosis of the disease is based on a comprehensive assessment of clinical polymorphism, determination of the activity of the enzyme α-galactosidase A in the blood and carrying out molecular genetic studies. Timely diagnosis and early initiation of substitution therapy allow slowing the progression of multisystem organ failure and significantly improving the quality of life of patients.

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About the authors

E. A Koltsova

FSBEI HE RNSMU n.a. N.I. Pirogov of RMH; SRI of Cerebrovascular Pathology and Stroke

Email: koltsovaevgenia@rambler.ru
Department of Fundamental and Clinical Neurology and Neurosurgery

E. I Kimelfeld

FSBEI HE RNSMU n.a. N.I. Pirogov of RMH

Department of Fundamental and Clinical Neurology and Neurosurgery

L. V Stakhovskaya

FSBEI HE RNSMU n.a. N.I. Pirogov of RMH; SRI of Cerebrovascular Pathology and Stroke

Department of Fundamental and Clinical Neurology and Neurosurgery

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