medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/2079-701X-2018-4-66-73medsovet-2335Research ArticleДРУГИЕ ПРОБЛЕМЫ ЭНДОКРИНОЛОГИИOTHER PROBLEMS OF ENDOCRINOLOGYГенетически детерминированные причины гипогликемического синдрома у взрослых пациентов без сахарного диабетаGenetically determined causes of hypoglycemic syndrome in adults without diabetesЮкинаМ. Ю.YukinaM. Yu.

Кандидат медицинских наук 

Москва

PhD in medicine 

Moscow

НуралиеваН. Ф.NuralievaN. F.ТрошинаЕ. А.TroshinaE. A.

Член-корреспондент РАН, доктор медицинских наук, профессор

Москва

MD, Prof., correspondence fellow of Russian Academy of Sciences 

Moscow

КузнецовН. С.PlatonovaN. M.

Доктор медицинских наук, профессор

Москва

MD 

Moscow

ПлатоноваН. М.KuznetsovN. S.

Доктор медицинских наук 

Москва

MD, Prof. emy of Sciences 

Moscow

Национальный медицинский исследовательский центр эндокринологии Минздрава РоссииРоссияNational Medical Research Center of Endocrinology of the Ministry of Health of RussiaRussian Federation201831032018046673Copyright © Юкина М.Ю., Нуралиева Н.Ф., Трошина Е.А., Кузнецов Н.С., Платонова Н.М., 20182018Юкина М.Ю., Нуралиева Н.Ф., Трошина Е.А., Кузнецов Н.С., Платонова Н.М.Yukina M.Y., Nuralieva N.F., Troshina E.A., Platonova N.M., Kuznetsov N.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-sovet.pro/jour/article/view/2335

Гипогликемический синдром – это симптомокомплекс, развивающийся вследствие снижения уровня глюкозы крови. В практике эндокринолога основной причиной гипогликемии у больных без сахарного диабета является инсулинпродуцирующая опухоль поджелудочной железы – инсулинома. В ткани инсулиномы происходят различные молекулярно-генетические нарушения, которые приводят к изменению секреции инсулина и его предшественников.

Нередко возникает ситуация, в которой не удается установить причину снижения уровня глюкозы крови. В таких случаях развитие гипогликемии может быть результатом различных генетически детерминированных ферментных, аутоиммунных и рецепторных нарушений, которые обусловливают изменение метаболизма глюкозы или синтеза/биоактивности инсулина. При мягком течении таких врожденных заболеваний гипогликемические состояния могут впервые проявляться во взрослом возрасте.

В представленном обзоре описаны различные генетические предикторы (мутации), играющие решающую роль в возникновении ферментных, аутоиммунных, рецепторных и пролиферативных нарушений и, как следствие, гипогликемии.

Hypoglycemic syndrome is a symptom complex that results from low blood sugar levels. In the endocrinologist practice, an insulinoma that is a small tumor in the pancreas that produces an excess amount of insulin is regarded as the main cause of hypoglycemia in patients without diabetes mellitus. Various molecular and genetic disorders develop in the insulinoma tissue, that lead to a change in the secretion of insulin and its precursors.

There is often a situation when it is not possible to establish the cause of lowering blood glucose levels. In such cases, the development of hypoglycemia can result from various genetically determined enzyme, autoimmune and receptor disorders that cause a change in glucose metabolism or the synthesis/bioactivity of insulin. In the mild course of such congenital diseases, hypoglycemic conditions may first manifest in adulthood.

The review describes various genetic predictors (mutations) that play a decisive role in the development of enzyme, autoimmune, receptor and proliferative disorders and, as a consequence, hypoglycemia.

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