problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl13823problendo-13823Research ArticleДетская эндокринологияPediatric EndocrinologyКлинические рекомендации «Врожденный гиперинсулинизм»Clinical practice guidelines "Congenital hyperinsulinism"https://orcid.org/0000-0003-3127-5974БолмасоваА. В.BolmasovaA. V.

Болмасова Анна Викторовна, кандидат медицинских наук

117036, Москва, ул. Дм. Ульянова, д. 11

Anna V. Bolmasova, MD, PhD

11 Dm. Ulyanova street, 117036 Moscow

bolmasova.anna@endocrincentr.ruhttps://orcid.org/0000-0002-8610-821XЯнарЭ. А.YanarE. A.

Янар Эда Альперовна, к.м.н.

Москва

Eda A. Yanar. MD, PhD

Moscow

Yanar.Eda@endocrincentr.ruhttps://orcid.org/0000-0003-4013-0785НикитинаИ. Л.NikitinaI. L.

Никитина Ирина Леоровна, д.м.н., проф. 

Санкт-Петербург

Irina L. Nikitina, MD, PhD, Professor

Saint Petersburg

nikitina0901@gmail.comhttps://orcid.org/0000-0001-7736-5372КолодкинаА. А.KolodkinaA. A.

Колодкина Анна Александровна, к.м.н.

Москва

Anna A. Kolodkina, MD, PhD

Moscow

anna_kolodkina@mail.ruhttps://orcid.org/0000-0002-4132-6969МихалинаС. Д.MikhalinaS. D.

Михалина Софья Дмитриевна

Москва

Sofia D. Mikhalina

Moscow

mikhalina.sd@gmail.comhttps://orcid.org/0000-0002-5507-4627ПетерковаВ. А.PeterkovaV. A.

Петеркова Валентина Александровна, д.м.н., профессор, академик РАН

Москва

Valentina A. Peterkova, PhD, professor, academician of Russian Academy of Medical Sciences

Moscow

peterkovava@hotmail.comhttps://orcid.org/0000-0001-9621-5732БезлепкинаО. Б.BezlepkinaO. B.

Безлепкина Ольга Борисовна, д.м.н., профессор

Москва

Olga B. Bezlepkina, PhD, Professor

Moscow

olgabezlepkina@mail.ruНациональный медицинский исследовательский центр эндокринологии им. академика И.И. ДедоваРоссияEndocrinology Research CentreRussian FederationНациональный медицинский исследовательский центр им. В.А. АлмазоваРоссияAlmazov National Medical Research CentreRussian Federation2026080920267248097Copyright © Болмасова А.В., Янар Э.А., Никитина И.Л., Колодкина А.А., Михалина С.Д., Петеркова В.А., Безлепкина О.Б., 20262026Болмасова А.В., Янар Э.А., Никитина И.Л., Колодкина А.А., Михалина С.Д., Петеркова В.А., Безлепкина О.Б.Bolmasova A.V., Yanar E.A., Nikitina I.L., Kolodkina A.A., Mikhalina S.D., Peterkova V.A., Bezlepkina O.B.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/13823

Врожденный гиперинсулинизм (ВГИ) — редкое генетически гетерогенное заболевание, характеризующееся неадекватной гиперсекрецией инсулина бета-клетками поджелудочной железы и представляющее собой наиболее частую причину персистирующих гипогликемий у детей раннего возраста. Частота ВГИ в общей популяции составляет от 1:30 000 до 1:50 000 живых новорожденных. Своевременная диагностика и лечение ВГИ имеют решающее значение, поскольку персистирующие гипогликемии способны приводить к необратимому повреждению центральной нервной системы. В обзоре обобщены современные представления об этиологии и патогенезе ВГИ, представлена актуальная классификация ВГИ по длительности течения, этиологии, гистологической форме и ответу на терапию диазоксидом. Подробно освещен диагностический алгоритм, включающий провокационные пробы, молекулярно-генетическое исследование и визуализирующие методы исследования. Рассмотрена этапность консервативного и показания к хирургическому лечению. Обзор основан на положениях актуализированных клинических рекомендаций и предназначен для практикующих врачей — педиатров, эндокринологов и неонатологов, участвующих в ведении детей с гипогликемическими состояниями.

Congenital hyperinsulinism (CHI) is a rare, genetically heterogeneous disorder characterized by inappropriate hypersecre tion of insulin by pancreatic beta cells and is the most common cause of persistent hypoglycemia in young children. The in cidence of CHI in the general population ranges from 1:30,000 to 1:50,000 live births. Timely diagnosis and treatment of CHI are critical, as persistent hypoglycemia can lead to irreversible damage to the central nervous system. This review summa rizes current understanding of the etiology and pathogenesis of CHI and presents an up-to-date classification of CHI based on duration, etiology, histological form, and response to diazoxide therapy. A detailed diagnostic algorithm is provided, including provocative tests, molecular genetic testing, and imaging studies. The stages of conservative treatment and indi cations for surgical treatment are discussed. The review is based on updated clinical guidelines and is intended for practicing physicians — pediatricians, endocrinologists, and neonatologists — who care for children with hypoglycemic conditions.

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