diaendoСахарный диабетDiabetes mellitus2072-03512072-0378Endocrinology research centre10.14341/DM10063diaendo-10063Research ArticleКлинический случайCase reportТрудности диагностики сахарного диабета типа MODY2 у взрослыхMODY2 diagnostic issues in adultshttps://orcid.org/0000-0003-4929-1526КононенкоИрина ВладимировнаKononenkoIrina V.

к.м.н., старший научный сотрудник отделения наследственных эндокринопатий Института персонализированной медицины ФГБУ «НМИЦ эндокринологии» Минздрава России

PhD

shakhtarina@bk.ruhttps://orcid.org/0000-0002-7324-8344ГлибкаАнастасия АндреевнаGlibkaAnastasiya A.

клинический ординатор

MD, PhD student

anastasiya_glibka@mai.ruhttps://orcid.org/0000-0002-1346-7545ЗубковаНаталья АнатольевнаZubkovaNatalya A.

к.м.н., старший научный сотрудник отделения наследственных эндокринопатий Института персонализированной медицины 

PhD

zunata2006@yandex.ruhttps://orcid.org/0000-0001-5825-3287МайоровАлександр ЮрьевичMayorovAlexander Y.

д.м.н., заведующий отделом прогнозирования и инноваций диабета Института диабета, профессор кафедры диабетологии и диетологии Института высшего и дополнительного профессионального образования 

 MD, PhD

education@endocrincentr.ruhttps://orcid.org/0000-0001-8500-4841ТюльпаковАнатолий НиколаевичTyulpakovAnatoly N.

д.м.н., и.о. директора Института персонализированной медицины 

MD, PhD

ant@endocrincentr.ruhttps://orcid.org/0000-0002-5033-2412ШмидтОльга МарковнаSchmidtOlga M.

врач-эндокринолог отделения терапии диабета Института диабета 

MD

olga_shm@rambler.ruНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian Federation201925102019224384391Copyright © Кононенко И.В., Глибка А.А., Зубкова Н.А., Майоров А.Ю., Тюльпаков А.Н., Шмидт О.М., 20192019Кононенко И.В., Глибка А.А., Зубкова Н.А., Майоров А.Ю., Тюльпаков А.Н., Шмидт О.М.Kononenko I.V., Glibka A.A., Zubkova N.A., Mayorov A.Y., Tyulpakov A.N., Schmidt O.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.dia-endojournals.ru/jour/article/view/10063

Традиционно около 90% всех случаев сахарного диабета (СД) у взрослых приходится на долю СД 2 типа, при этом, как правило, СД типа MODY (maturity-onset diabetes of the young – диабет взрослого типа у молодых лиц) остается вовремя не диагностированным, что, в свою очередь, приводит к выбору неправильной тактики лечения. Одной из наиболее распространенных моногенных форм СД является заболевание, обусловленное мутацией гена глюкокиназы (GCK) – СД типа MODY2. Знание особенностей клинической картины заболевания позволяет выделить пациентов с высоким риском наличия мутации гена GCK и направить их для верификации диагноза на молекулярно-генетическое исследование (МГИ).

В настоящей работе отражены особенности клинической картины СД типа MODY2 и трудности его диагностики у взрослых. Представлен клинический случай пациентки с СД типа MODY2, который в полной мере демонстрирует все особенности данного типа СД.

Approximately 90% of all cases of diabetes mellitus in adults involve type 2 diabetes, while the prevalence of maturity-onset diabetes of the young (MODY) remains undetermined leading to inappropriate treatment regimens. One of the most common monogenic forms of diabetes is a disease caused by a mutation in the glucokinase gene, MODY2. Knowledge of the clinical features of the disease allows the selection of patients with a high risk of mutation in the glucokinase gene and verification of diagnosis for molecular genetic research. This paper reflects the clinical features of MODY2 and the difficulties of diagnosis in adults. Furthermore, it presents a clinical case of a patient with MODY2 demonstrating all the features of this type of diabetes. A family member with a mutation in the gene allows to predict the nature of carbohydrate metabolism disorders in first degree relatives. A targeted study of only one part of the glucokinase gene in molecular genetic research is sufficient to confirm the diagnosis in relatives.

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