zabmedvestnikЗабайкальский медицинский вестникTransbaikalian Medical Bulletin1998-6173Читинская государственная медицинская академия10.52485/19986173_2022_4_132zabmedvestnik-109Research ArticleНАУЧНЫЕ ОБЗОРЫSCIENTIFIC REVIEWSХроническая надпочечниковая недостаточность: генетические аспекты заболеванияChronic adrenal insufficiency: genetic aspects of the diseaseХамнуеваЛ. Ю.KhamnuevaL. Yu.

664003, г. Иркутск, ул. Красного восстания, 1

1 Krasnogo Vosstaniya str., Irkutsk, 664003

АндрееваЛ. С.AndreevaL. S.

664003, г. Иркутск, ул. Красного восстания, 1

1 Krasnogo Vosstaniya str., Irkutsk, 664003

ЧугуноваЕ. В.ChugunovaE. V.

664003, г. Иркутск, ул. Красного восстания, 1

1 Krasnogo Vosstaniya str., Irkutsk, 664003

Федеральное государственное бюджетное образовательное учреждение высшего образования «Иркутский государственный медицинский университет» Министерства здравоохранения Российской ФедерацииРоссияIrkutsk State Medical UniversityRussian Federation20220208202404132141Copyright © Хамнуева Л.Ю., Андреева Л.С., Чугунова Е.В., 20242024Хамнуева Л.Ю., Андреева Л.С., Чугунова Е.В.Khamnueva L.Y., Andreeva L.S., Chugunova E.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.zabmedvestnik.ru/jour/article/view/109

В обзорной статье представлена современная информация о патогенетических и генетических особенностях первичной надпочечниковой недостаточности (1-НН) на основе анализа имеющихся научных статей, индексируемых в базах данных PubMed и Web of Science. Целью статьи является рассмотрение иммунологических и молекулярно-генетических механизмов развития 1-НН различного генеза. Разнообразие этиологических причин недостаточности коры надпочечников ставит перед медицинским сообществом необходимость расширения знаний о доказанных мутациях генов, приводящих к снижению функции надпочечников, сочетающегося с поражением различных органов и систем. В обзоре представлены новейшие данные первого полногеномного ассоциативного исследования (genome-wide association study, GWAS) 1-НН аутоиммунного генеза. Исследование показало ассоциации аутоиммунной 1-НН с вариантами локусов риска: PTPN22, CTLA4, LPP, BACH2, SH2B3, SIGLEC5, UBASH3A и гена AIRE. Были идентифицированы четыре ранее неизвестных локуса: LPP, SH2B3, SIGLEC5 и UBASH3A. 1-НН может являться составной частью аутоиммунных полигландулярных синдромов 1 и 2 типа с мутацией в гене AIRE. Несмотря на достигнутые успехи современной науки, к настоящему времени необходимо внедрение в клиническую практику современных методов генетических исследований, позволяющих установить диагноз 1-НН, уточнить ее патогенетические механизмы, индивидуализировать лечение.

This review article provides current information on the pathogenetic and genetic features of primary adrenal insufficiency (1-HI) based on the analysis of available scientific articles indexed in PubMed and Web of Science. The aim of this article is to review the immunological and molecular genetic mechanisms of 1-HI development of various genesis. The diversity of etiological causes of adrenal cortical insufficiency has raised the need for the medical community to expand knowledge of proven gene mutations that lead to decreased adrenal function combined with lesions of various organs and systems. This review presents the latest data from the first genome-wide association study (GWAS) of 1-HI of autoimmune origin. The study showed associations of autoimmune 1-HI with risk loci variants PTPN22, CTLA4, LPP, BACH2, SH2B3, SIGLEC5, UBASH3A, and AIRE gene. Four previously unknown loci have been identified: LPP, SH2B3, SIGLEC5 and UBASH3A. 1-HI may be a component of autoimmune polyglandular syndromes type 1 and type 2 with a mutation in the AIRE gene. Despite the achievements of modern science, modern methods of genetic research allowing to establish the diagnosis of 1-HI, to clarify its pathogenetic mechanisms, and to individualize treatment are yet to be introduced into clinical practice.

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