CLASSIFICATION OF HEREDITARY DISEASES (LECTURE)
https://doi.org/10.57256/2949-0715-2023-2-77-86
Abstract
Relevance. The classification of hereditary pathology largely determines the success of diagnosis and treatment of genetically determined diseases. The lecture presents the main criteria for the classification of hereditary pathology, adopted in genetics. The features of the distribution of genetic diseases according to the types of inheritance, the level of localization of mutations, according to organ and system principles, as well as according to the biochemical principle, are highlighted. Explanations are given on the expediency of grouping diseases according to the types of classification. The connection of classifications with the treatment and diagnosis of hereditary pathology is shown. For each group of classifications, examples of hereditary syndromes and diseases are given.
Conclusion. The classification of hereditary pathology is an important key to the diagnosis, treatment and prevention of hereditary diseases. At the moment, the OMIM Mendelian inheritance database contains information on more than 16,000 mutations of genes that determine hereditary syndromes (diseases), which is an order of magnitude more than the number of known nosological forms of somatic diseases. Classification helps the practitioner to understand the etiology, pathogenesis, clinical manifestations of hereditary diseases and is one of the most important diagnostic steps.
About the Authors
Elena A. Tkachuk
Irkutsk State Medical University
Russian Federation
Russian Federation
Igor Zh. Seminsky
Irkutsk State Medical University
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Review
For citations:
Tkachuk E.A., Seminsky I.Zh. CLASSIFICATION OF HEREDITARY DISEASES (LECTURE). Baikal Medical Journal. 2023;2(2):77-86. (In Russ.) https://doi.org/10.57256/2949-0715-2023-2-77-86
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