medalphabetМедицинский алфавитMedical alphabet2078-56312949-2807ООО «Альфмед»10.33667/2078-5631-2020-7-22-27medalphabet-1494Research ArticleСтатьиБолезнь Фабри в кардиологическом аспектеFabry’s disease in cardiological aspectХидироваЛ. Д.KhidirovaL. D.

к. м. н., доцент кафедры фармакологии, клинической фармакологии и доказательной медицины

г. Новосибирск

МагомедоваА. Х.MagomedovaA. Kh.

студентка VI курса лечебного факультета

г. Новосибирск

ВасиленкоА. А.VasilenkoA. A.

студентка VI курса лечебного факультета

г. Новосибирск

ДульченкоВ. С.DudchenkoV. S.

студентка VI курса лечебного факультета

г. Новосибирск

ФГБОУ ВО «Новосибирский государственный медицинский университет» Минздрава РоссииРоссияNovosibirsk State Medical UniversityRussian Federation20201606202007Кардиология и неотложная медицина2227Copyright © Хидирова Л.Д., Магомедова А.Х., Василенко А.А., Дульченко В.С., 20202020Хидирова Л.Д., Магомедова А.Х., Василенко А.А., Дульченко В.С.Khidirova L.D., Magomedova A.K., Vasilenko A.A., Dudchenko V.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-alphabet.com/jour/article/view/1494

Наследственное генетическое X-сцепленное заболевание «болезнь Фабри» относится к группе лизосомальных болезней накопления и обусловлено мутациями в гене GLA и характеризуется снижением функциональной активности или полным отсутствием фермента α-галактозидазы А. Данная патология относится к группе орфанных заболеваний. Мутация гена GLA приводит к образованию дефектных форм фермента α-галактозидазы А, что способствует нарушению катаболизма гликосфинголипидов, их дальнейшему накоплению в лизосомах различных клеточных культур и развитию лизосомально-клеточной дисфункции. Распространенность болезни Фабри составляет около одного случая на 117 тысяч живорожденных мальчиков. По данным скрининговых исследований, у новорожденных этот показатель может составлять порядка одного случая на 3 100 и поражает в одинаковой степени представителей всех этнических групп. Болезнь Фабри стала активно изучаться в России, но более 5 тысяч человек (по расчетным данным) остаются не диагностированы. На первом месте среди причин смерти при болезни Фабри стоит поражение сердца, в частности гипертрофия левого желудочка, с развитием в последующем диастолической дисфункции и сердечной недостаточности. Нередко наблюдаются нарушения ритма сердца. Ранняя диагностика болезни Фабри приведет к назначению генотип-специфической фермент-заместительной терапии и снизит риска развития сердечно-сосудистых осложнений.

Hereditary genetic X-linked disease Fabry’s disease belongs to the group of lysosomal accumulation diseases and is caused by mutations in the GLA gene and is characterized by a decrease in functional activity or complete absence of the enzyme α-galactosidase A. This pathology belongs to the group of orphan diseases. Mutation of the GLA gene leads to the formation of defective forms of the enzyme α-galactosidase A, which contributes to the violation of the catabolism of glycosphingolipids, their further accumulation in the lysosomes of various cell cultures, and the development of lysosomal cell dysfunction. The prevalence of Fabry disease is about 1 in 117,000 live-born boys. According to screening studies in newborns, this figure can be about 1 in 3,100 and affects to the same extent representatives of all ethnic groups. Fabri’s disease has become actively studied in Russia, but more than 5,000 people (according to estimates) remain undiagnosed. In the first place among the causes of death in Fabry’s disease is heart disease, in particular left ventricular hypertrophy with the subsequent development of diastolic dysfunction and heart failure. Heart rhythm disorders are often observed. Early diagnosis of Fabri disease will lead to the appointment of genotype-specific enzyme replacement therapy and reduce the risk of cardiovascular complications.

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