medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2021.06.3-13medgen-1938Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWCовременные представления о клинике, диагностике и терапии болезни ФабриModern ideas about the clinic, diagnosis and therapy of Fabry diseaseМазановаН. Н.MazanovaN. N.maznatik@mail.ruАсановА. Ю.AsanovA. Yu.noemail@neicon.ruБакановМ. И.BakanovM. I.noemail@neicon.ruЧебеляевИ. Ю.ChebelyaevI. G.noemail@neicon.ruСавостьяновК. В.SavostyanovK. V.noemail@neicon.ruФГАУ «Национальный Медицинский Исследовательский Центр здоровья детей» Минздрава России; ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)РоссияNational Medical Research Center for Children’s Health; I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)Russian FederationФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)РоссияI.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)Russian FederationФГАУ «Национальный Медицинский Исследовательский Центр здоровья детей» Минздрава РоссииРоссияNational Medical Research Center for Children’s HealthRussian Federation202128102021206313Copyright © Мазанова Н.Н., Асанов А.Ю., Баканов М.И., Чебеляев И.Ю., Савостьянов К.В., 20212021Мазанова Н.Н., Асанов А.Ю., Баканов М.И., Чебеляев И.Ю., Савостьянов К.В.Mazanova N.N., Asanov A.Y., Bakanov M.I., Chebelyaev I.G., Savostyanov K.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/1938

Обзор литературы посвящён болезни Фабри (БФ) - редкому наследственному заболеванию. В нем представлен всесторонний анализ современных эпидемиологических данных и особенностей этиопатогенеза БФ, а также даны клинико-патогенетические характеристики различных типов БФ. Подробно описана роль фермента α-галактозидазы А и биомаркера глоботриаозилсфингозина (лизо-Гб3) при БФ. Изложены и указаны ключевые этапы биохимического и молекулярно-генетического поиска в диагностике данной патологии, описаны современные возможности терапии.

The focus of the article is Fabry disease - a rare enough hereditary pathology. The authors present the most up-to-date epidemiological data and features of Fabry disease etiopathogenesis. The offer clinical characteristics of the various types of this disease. The role of enzyme α-galactosidase A and biomarker globotriaosylsphingosine in Fabry disease is describes in detail. The key stages of the biochemical and molecular genetic search in the diagnosis of this pathology are outlined and indicated, the modern possibilities of therapy are described.

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The authors declare that there are no conflicts of interest present.