zabmedvestnikЗабайкальский медицинский вестникTransbaikalian Medical Bulletin1998-6173Читинская государственная медицинская академия10.52485/19986173_2024_1_170zabmedvestnik-20Research ArticleНАУЧНЫЕ ОБЗОРЫSCIENTIFIC REVIEWSНАСЛЕДСТВЕННЫЙ АНГИОНЕВРОТИЧЕСКИЙ ОТЕК С НОРМАЛЬНЫМ УРОВНЕМ С1-ИНГИБИТОРАHEREDITARY ANGIOEDEMA WITH NORMAL LEVELS OF C1-INHIBITORМихноВ. А.MikhnoV. A.

672000, г. Чита, ул. Горького, 39А

39A, Gorky str., Chita, 672000

БогомоловаИ. К.BogomolovaI. К.

672000, г. Чита, ул. Горького, 39А

39A, Gorky str., Chita, 672000

Федеральное государственное бюджетное образовательное учреждение высшего образования «Читинская государственная медицинская академия» Министерства здравоохранения Российской ФедерацииРоссияChita Sate Medical AcademyRussian Federation20241805202401170178Copyright © Михно В.А., Богомолова И.К., 20242024Михно В.А., Богомолова И.К.Mikhno V.A., Bogomolova I.К.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.zabmedvestnik.ru/jour/article/view/20

Наследственный ангионевротический отек относится к жизнеугрожающим, орфанным заболеваниям и характеризуется рецидивирующими отеками глубоких слоев дермы различной локализации. Он связан с дефицитом или снижением функции С1-ингибитора или не зависит от него. Нарушения в генах SERPING1, FXII, PLG, ANGPT1, KNG1, MYOF и HS3ST6 приводят к формированию наследственного ангионевротического отека. Некоторые из этих генов участвуют в метаболизме брадикинина, другие влияют на проницаемость эндотелия. В общей сложности нами выявлено 1 078 статей, 40 из которых включены в обзор. Обзор подчеркивает важность дальнейшего исследования молекулярных особенностей данного заболевания и методов лечения.

Hereditary angioedema refers to life-threatening, orphan diseases and is characterized by recurrent edema in deep dermis of various localization. It is associated with a deficiency or decrease in C1-inhibitor function or does not depend on it. Genetic variants in the SERPING1, FXII, PLG, ANGPT1, KNG1, MYOF, and HS3ST6 genes lead to hereditary angioedema. Some of these genes are involved in the metabolism of bradykinin, others influence the permeability of the endothelium. In total, we identified 1078 articles, 40 of which are included in the review. This review emphasizes the importance of further research of the molecular features of these diseases and, treatment.

наследственный ангионевротический отекрецидивирующий отекбрадикининС1-ингибиторсистема комплементаhereditary angioedemarecurrent edemabradykininC1-inhibitorcomplement systemИсследование не имело финансовой поддержки.ReferencesОсипова В.В., Осипова Г.Л. Наследственный ангионевротичекий отек: позиция EAACI (2017 г.). Астма и аллергия. 2018. 2. 17-20.Osipova V.V., Osipova G.L. Hereditary Angioedema: Standpoint EAACI (2017). Asthma and Allergies. 2018. 2. 17-20. in Russian.Собко Е.А., Демко И.В., Соловьева И.А. и соавт. Сложный пациент в практике врача: наследственный ангионевротический отек. РМЖ. Медицинское обозрение. 2021. 5 (1). 50-53. DOI: 10.32364/2587-6821-2021-5-1-50-53.Sobko E.A., Demko I.V., Solovieva I.A. et al. Complex clinical case: hereditary angioedema. Russian Medical Inquiry. 2021. 5 (1). 50–53. DOI: 10.32364/2587-6821-2021-5-1-50-53.Гурьянова И.Е. 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The authors declare that there are no conflicts of interest present.