Janibekova Asiyat Ramazanovna (Candidate of Medical Sciences, Associate Professor
of the Department of Internal Medicine,
Dean of the Faculty of Foreign Students
of the Medical Institute North Caucasus State Academy,
Karachay-Cherkess Republic, Cherkessk
)
Uzdenov Marat Borisovich ( Candidate of Medical Sciences, Director of the Medical Institute,
Associate Professor, Head of the Department of Topographic and Pathological Anatomy with a course in operative Surgery,
North Caucasus State Academy,
Karachay-Cherkess Republic, Cherkessk
)
Aibazova Fatima Unukhovna (PhD. PhD in Biology, Associate Professor, Head of the Department of Biology at the North Caucasus State Academy Medical Institute,
Cherkessk, Karachay-Cherkess Republic
)
Janibekova Leila Ramazanovna (Candidate of Medical Sciences, Associate Professor of the Department of Internal Diseases at the North Caucasus State Academy Medical Institute, Cardiologist, Head of the Department of Emergency Cardiology
at the Karachay-Cherkess Republican Clinical Hospital,
Chief Freelance Cardiologist at the Ministry of Health
of the Karachay-Cherkess Republic, Cherkessk
)
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The article is devoted to the topic of mitochondrial diseases, which are among the most common genetic metabolic disorders. A special group consists of lysosomal storage diseases, one of the variants of which is Fabry disease (CF). This is a progressive orphan hereditary metabolic disease linked to the X chromosome in the GLA gene encoding the alpha GalA enzyme, leading to its absence or insufficient activity, resulting in an abnormal accumulation of hereditary metabolic disease /(and PKP – glycophospholipids of two types: globotriaosylceramide (Gb3) to a greater extent and its derivative globotriaosylsphingosine (Lizo – Gb3) in lysosomes of cells of various body tissues (vascular endothelium, kidneys, heart, CNS (central nervous system), peripheral nervous system, etc.), as well as in serous body fluids [1,2]. The results of recent studies have supplemented information on the epidemiology of Fabry disease and its prevalence. However, this diagnosis is still not always established, which leads to a late diagnosis of the disease and the absence of pathogenetic therapy. Further research is needed to clarify the factors involved in the early diagnosis of the disease in patients with Fabry's disease.
Keywords:hereditary metabolic disease, lysosomal storage diseases, Fabry disease, epidemiology, alpha galactosidase A, enzyme replacement therapy.
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Citation link:
Janibekova A. R., Uzdenov M. B., Aibazova F. U., Janibekova L. R. SOME CLINICAL MANIFESTATIONS OF FABRY'S DISEASE, ASPECTS OF DIAGNOSIS AND TREATMENT // Современная наука: актуальные проблемы теории и практики. Серия: Естественные и Технические Науки. -2025. -№10. -С. 231-238 DOI 10.37882/2223-2966.2025.10.13 |
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