<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">docru</journal-id><journal-title-group><journal-title xml:lang="ru">Доктор.Ру</journal-title><trans-title-group xml:lang="en"><trans-title>Title</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1727-2378</issn><issn pub-type="epub">2713-2994</issn><publisher><publisher-name>ООО "ГК "РУСМЕДИКАЛ"</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.31550/1727-2378-2024-23-4-60-66</article-id><article-id custom-type="elpub" pub-id-type="custom">docru-333</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КЛИНИЧЕСКИЙ ОПЫТ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>CLINICAL EXPERIENCE</subject></subj-group></article-categories><title-group><article-title>GCK-MODY у молодых мужчин: значение поведенческих и кардиометаболических факторов риска в развитии осложнений</article-title><trans-title-group xml:lang="en"><trans-title>GCK-MODY in Young Men: the Role of Behavioral and Cardiometabolic Risk Factors in the Development of Complications</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-4095-0169</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Рымар</surname><given-names>О. Д.</given-names></name><name name-style="western" xml:lang="en"><surname>Rymar</surname><given-names>O. D.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Рымар Оксана Дмитриевна — д. м. н., главный научный сотрудник с возложением обязанностей заведующей лабораторией клинико-популяционных исследований терапевтических и эндокринных заболеваний</p><p>630089, г. Новосибирск, ул. Бориса Богатова, д. 175/1</p></bio><bio xml:lang="en"><p>Rymar, O.D.</p><p>175/1 Boris Bogatkov Str., Novosibirsk, 630089</p></bio><email xlink:type="simple">orymar23@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-7699-3211</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Галенок</surname><given-names>Р. Б.</given-names></name><name name-style="western" xml:lang="en"><surname>Galenok</surname><given-names>R. B.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Галенок Регина Борисовна — младший научный сотрудник лаборатории клинико-популяционных исследований терапевтических и эндокринных заболеваний</p><p>630089, г. Новосибирск, ул. Бориса Богатова, д. 175/1</p></bio><bio xml:lang="en"><p>Galenok, R.B.</p><p>175/1 Boris Bogatkov Str., Novosibirsk, 630089</p></bio><email xlink:type="simple">rgalenok@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0403-545X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Иванощук</surname><given-names>Д. Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Ivanoshchuk</surname><given-names>D. E.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Иванощук Динара Евгеньевна — младший научный сотрудник лаборатории молекулярной генетики человека ФГБНУ ИЦиГ СО РАН, научный сотрудник лаборатории молекулярно-генетических исследований терапевтических заболеваний</p><p>630089, г. Новосибирск, ул. Бориса Богатова, д. 175/1</p></bio><bio xml:lang="en"><p>Ivanoshchuk, D.E.</p><p>175/1 Boris Bogatkov Str., Novosibirsk, 630089</p></bio><email xlink:type="simple">dinara2084@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-6459-7780</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Долинская</surname><given-names>Ю. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Dolinskaya</surname><given-names>Yu. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Долинская Юлия Александровна — заведующая отделением эндокринологии клиники</p><p>630089, г. Новосибирск, ул. Бориса Богатова, д. 175/1</p></bio><bio xml:lang="en"><p>Dolinskaya, Yu.A.</p><p>175/1 Boris Bogatkov Str., Novosibirsk, 630089</p></bio><email xlink:type="simple">dolin-yuliya@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Дудина</surname><given-names>М. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Dudina</surname><given-names>M. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Дудина Марина Владимировна — младший научный сотрудник лаборатории клинико-популяционных и профилактических исследований терапевтических и эндокринных заболеваний</p><p>630089, г. Новосибирск, ул. Бориса Богатова, д. 175/1</p></bio><bio xml:lang="en"><p>Dudina, M.V.</p><p>175/1 Boris Bogatkov Str., Novosibirsk, 630089</p></bio><email xlink:type="simple">marina_5.95@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1968-9712</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Каширина</surname><given-names>А. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Kashirina</surname><given-names>A. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Каширина Анастасия Петровна — младший научный сотрудник</p><p>630089, г. Новосибирск, ул. Бориса Богатова, д. 175/1</p></bio><bio xml:lang="en"><p>Kashirina, A.P.</p><p>175/1 Boris Bogatkov Str., Novosibirsk, 630089</p></bio><email xlink:type="simple">kashirina_a_p_91@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9669-745X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Овсянникова</surname><given-names>А. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Ovsyannikova</surname><given-names>A. K.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Овсянникова Алла Константиновна — д. м. н., старший научный сотрудник лаборатории клинико-популяционных исследований терапевтических и эндокринных заболеваний</p><p>630089, г. Новосибирск, ул. Бориса Богатова, д. 175/1</p></bio><bio xml:lang="en"><p>Ovsyannikova, A.K.</p><p>175/1 Boris Bogatkov Str., Novosibirsk, 630089</p></bio><email xlink:type="simple">aknikolaeva@bk.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мельникова</surname><given-names>П. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Melnikova</surname><given-names>P. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мельникова Полина Михайловна — врач-ординатор</p><p>630089, г. Новосибирск, ул. Бориса Богатова, д. 175/1</p></bio><bio xml:lang="en"><p>Melnikova, P.M.</p><p>175/1 Boris Bogatkov Str., Novosibirsk, 630089</p></bio><email xlink:type="simple">polinamel2506@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Смолеусова</surname><given-names>В. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Smoleusova</surname><given-names>V. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Смолеусова Валентина Геннадьевна — врач-ординатор</p><p>630089, г. Новосибирск, ул. Бориса Богатова, д. 175/1</p></bio><bio xml:lang="en"><p>Smoleusova, V.G.</p><p>175/1 Boris Bogatkov Str., Novosibirsk, 630089</p></bio><email xlink:type="simple">valentina.gotfrid@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Шахтшнейдер</surname><given-names>Е. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Shakhtshneider</surname><given-names>E. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Шахтшнейдер Елена Владимировна — к. м. н., ведущий научный сотрудник лаборатории молекулярно-генетических исследований терапевтических заболеваний</p><p>630089, г. Новосибирск, ул. Бориса Богатова, д. 175/1</p></bio><bio xml:lang="en"><p>Shakhtshneider, E.V.</p><p>175/1 Boris Bogatkov Str., Novosibirsk, 630089</p></bio><email xlink:type="simple">2117409@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Научно-исследовательский институт терапии и профилактической медицины — филиал ФГБНУ «Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наук»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Institute of Internal and Preventive Medicine — Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2024</year></pub-date><pub-date pub-type="epub"><day>16</day><month>02</month><year>2025</year></pub-date><volume>23</volume><issue>4</issue><fpage>60</fpage><lpage>66</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Рымар О.Д., Галенок Р.Б., Иванощук Д.Е., Долинская Ю.А., Дудина М.В., Каширина А.П., Овсянникова А.К., Мельникова П.М., Смолеусова В.Г., Шахтшнейдер Е.В., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Рымар О.Д., Галенок Р.Б., Иванощук Д.Е., Долинская Ю.А., Дудина М.В., Каширина А.П., Овсянникова А.К., Мельникова П.М., Смолеусова В.Г., Шахтшнейдер Е.В.</copyright-holder><copyright-holder xml:lang="en">Rymar O.D., Galenok R.B., Ivanoshchuk D.E., Dolinskaya Y.A., Dudina M.V., Kashirina A.P., Ovsyannikova A.K., Melnikova P.M., Smoleusova V.G., Shakhtshneider E.V.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://docru.elpub.ru/jour/article/view/333">https://docru.elpub.ru/jour/article/view/333</self-uri><abstract><sec><title>Цель статьи</title><p>Цель статьи. Представить два клинических случая Maturity-Onset Diabetes of the Young (диабета взрослого типа у молодых), в основе которого лежит наличие патогенных вариантов в гене глюкокиназы (GCK), — GCK-MODY; дать характеристику поведенческих и кардиометаболических факторов риска осложнений диабета.</p></sec><sec><title>Основные положения</title><p>Основные положения. В первом клиническом случае у пробанда и его отца выявлен ранее описанный в литературе патогенный вариант p.Trp257Ter (c.770G&gt;A, NM_000162.5) гена GCK, во втором — патогенный вариант p.Cys271Ter (c.1113C&gt;A, NM_000162.5) гена GCK. Пробанды — молодые мужчины 22 и 21 года соответственно. Сахарный диабет (СД) у них впервые был диагностирован в возрасте 10 и 6 лет при рутинных обследованиях. Оба мальчика наблюдались у детского эндокринолога, клинические симптомы гипергликемии отсутствовали, сахароснижающие препараты они не принимали и не получают по настоящее время. При обследовании через 11 и 15 лет после диагностики СД у обоих пациентов уровень С-пептида был в пределах референсных значений, что свидетельствует о сохранности секреторной функции β-клеток поджелудочной железы. Антитела были отрицательными, уровень гликированного гемоглобина — 5,7 и 6,1% соответственно. Осложнения СД у пациентов не выявлены. У отцов пробандов концентарция гликированного гемоглобина — 6,4 и 6,5% соответственно. Отец пробанда из первого клинического случая не соблюдает рекомендации по здоровому образу жизни и питанию, не отрицает еженедельное потребление алкоголя. При обследовании у него обнаружены избыточная масса тела, артериальная гипертензия, дислипидемия, стеатогепатит, атеросклероз брахиоцефальных сосудов, которые увеличивают риск сердечно-сосудистых событий. Отец пробанда из второго клинического случая соблюдает рекомендации по здоровому образу жизни. При обследовании масса тела, артериальное давление, содержание липидов в крови в пределах целевых значений.</p></sec><sec><title>Заключение</title><p>Заключение. Представляя два клинических случая и семейные истории пациентов с GCK-MODY, авторы обращают внимание на то, что cоблюдение принципов здорового образа жизни, оценка и коррекция основных факторов риска позволят избежать появления и прогрессирования осложнений у пациентов с GCK-MODY. При осуществлении наблюдения и лечения больных с диабетом любого типа важно руководствоваться принципами профилактической медицины.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Aim</title><p>Aim. Present two clinical cases of Maturity-Onset Diabetes of the Young, which is based on the presence of pathogenic variants in the glucokinase (GCK) gene — GCK-MODY; to characterize behavioral and cardiometabolic risk factors for diabetes complications.</p></sec><sec><title>Key points</title><p>Key points. In the first clinical case, the pathogenic variant p.Trp257Ter (c.770G&gt;A, NM_000162.5) of the GCK gene, previously described in the literature, was identified in the proband and his father, in the second — the pathogenic variant p.Cys271Ter (c.1113C&gt;A, NM_000162. 5) GCK gene. Probands are young men, 22 and 21 years old, respectively. They were first diagnosed with diabetes in the ages of 10 and 6 years during routine examinations. There were no clinical symptoms of hyperglycemia; they did not take and do not currently take hypoglycemic drugs. When examined 11 and 15 years after the diagnosis of diabetes, in each patient the level of C-peptide was within the reference values, which indicates the preservation of the secretory function of pancreatic β-cells. Antibodies were negative, the level of glycated hemoglobin (HbA1c) was 5.7 and 6.1%, respectively. No complications of diabetes were identified in either patient. The fathers of probands from both families had HbA1c levels of 6.4 and 6.5%, respectively. The father of the proband from the first clinical case does not comply with recommendations for a healthy lifestyle and nutrition, and does not deny weekly alcohol consumption. Upon examination, he was found to be overweight, arterial hypertension, dyslipidemia, steatohepatitis, and atherosclerosis of the brachiocephalic vessels, which increase the risk of cardiovascular events. The father of the proband from the second clinical case follows recommendations for a healthy lifestyle. During the examination, body weight, blood pressure, blood lipids are within the target range.</p></sec><sec><title>Conclusion</title><p>Conclusion. Presenting two clinical cases and family histories of patients with GCK-MODY, the authors note that the compliance with the principles of a healthy lifestyle, assessment and correction of the main risk factors will help avoid the emergence and progression of complications in patients with GCK-MODY. When monitoring and treating patients with diabetes of any type, it is important to follow the principles of preventive medicine.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>молекулярно-генетическое исследование</kwd><kwd>ген GCK</kwd><kwd>моногенный сахарный диабет</kwd><kwd>Maturity-Onset Diabetes of the Young</kwd><kwd>гипергликемия</kwd><kwd>сахарный диабет у молодых людей</kwd></kwd-group><kwd-group xml:lang="en"><kwd>Molecular genetic research</kwd><kwd>GCK gene</kwd><kwd>monogenic diabetes mellitus</kwd><kwd>Maturity-Onset Diabetes of the Young</kwd><kwd>hyperglycemia</kwd><kwd>diabetes mellitus in young people</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Liu J., Xiao X., Zhang Q., Yu M. Insights from basic adjunctive examinations of GCK-MODY, HNF1A-MODY, and type 2 diabetes: a systemic review and meta-analysis. J. Diabetes. 2023;15(6): 519–31. DOI: 10.1111/1753-0407.13390</mixed-citation><mixed-citation xml:lang="en">Liu J., Xiao X., Zhang Q., Yu M. Insights from basic adjunctive examinations of GCK-MODY, HNF1A-MODY, and type 2 diabetes: a systemic review and meta-analysis. J. Diabetes. 2023;15(6): 519–31. DOI: 10.1111/1753-0407.13390</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Рымар О.Д., Овсянникова А.К., Мустафина С.В., Максимов В.Н. и др. Роль MODY-диабета в структуре заболеваемости сахарным диабетом среди пациентов молодого возраста. Сибирский медицинский журнал. 2011;26(4–2):45–9.</mixed-citation><mixed-citation xml:lang="en">Rymar O.D., Ovsyannikova A.K., Mustafina S.V., Maksimov V.N. et al. Role of MODY-diabetes in structure of morbidity rate of diabetes mellitus among patients of young age. Siberian Medical Journal. 2011; 26(4–2):45–9. (in Russian)</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Zečević K., Volčanšek Š., Katsiki N., Rizzo M. et al Maturity-onset diabetes of the young (MODY) — in search of ideal diagnostic criteria and precise treatment. Progress in Cardiovascular Diseases. 2024. DOI: 10.1016/j.pcad.2024.03.004</mixed-citation><mixed-citation xml:lang="en">Zečević K., Volčanšek Š., Katsiki N., Rizzo M. et al Maturity-onset diabetes of the young (MODY) — in search of ideal diagnostic criteria and precise treatment. Progress in Cardiovascular Diseases. 2024. DOI: 10.1016/j.pcad.2024.03.004</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Aarthy R., Aston-Mourney K., Amutha A., Mikocka-Walus A. et al. Prevalence, clinical features and complications of common forms of Maturity Onset Diabetes of the Young (MODY) seen at a tertiary diabetes centre in south India. Prim. Care Diabetes. 2023;17(4):401–7. DOI: 10.1016/j.pcd.2023.04.004</mixed-citation><mixed-citation xml:lang="en">Aarthy R., Aston-Mourney K., Amutha A., Mikocka-Walus A. et al. Prevalence, clinical features and complications of common forms of Maturity Onset Diabetes of the Young (MODY) seen at a tertiary diabetes centre in south India. Prim. Care Diabetes. 2023;17(4):401–7. DOI: 10.1016/j.pcd.2023.04.004</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Greeley S.A.W., Polak M., Njølstad P.R., Barbetti F. et al. ISPAD Clinical Practice Consensus Guidelines 2022: the diagnosis and management of monogenic diabetes in children and adolescents. Pediatr. Diabetes. 2022;23(8):1188–211. DOI: 10.1111/pedi.13426</mixed-citation><mixed-citation xml:lang="en">Greeley S.A.W., Polak M., Njølstad P.R., Barbetti F. et al. ISPAD Clinical Practice Consensus Guidelines 2022: the diagnosis and management of monogenic diabetes in children and adolescents. Pediatr. Diabetes. 2022;23(8):1188–211. DOI: 10.1111/pedi.13426</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Bonnefond A., Unnikrishnan R., Doria A., Vaxillaire M. et al. Monogenic diabetes. Nat. Rev. Dis. Primers. 2023;9(1):12. DOI: 10.1038/s41572-023-00421-w</mixed-citation><mixed-citation xml:lang="en">Bonnefond A., Unnikrishnan R., Doria A., Vaxillaire M. et al. Monogenic diabetes. Nat. Rev. Dis. Primers. 2023;9(1):12. DOI: 10.1038/s41572-023-00421-w</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Кураева Т.Л., Сечко Е.А., Зильберман Л.И., Иванова О.Н. и др. Молекулярно-генетические и клинические варианты MODY2 и MODY3 у детей в России. Проблемы эндокринологии. 2015;61(5):14–25. DOI: 10.14341/probl201561514-25</mixed-citation><mixed-citation xml:lang="en">Kuraeva T.L., Sechko E.A., Zilberman L.I., Ivanova O.N. et al. Molecular genetic and clinical variants MODY2 and MODY3 in children in Russia. Problems of Endocrinology. 2015;61(5):14–25. (in Russian). DOI: 10.14341/probl201561514-25</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Зубкова Н.А., Гиоева О.А., Тихонович Ю.В., Петров В.М. и др. Клиническая и молекулярно-генетическая характеристика случаев MODY1–3 в Российской Федерации, выявленных по результатам NGS. Проблемы эндокринологии. 2017;63(6): 369–78. DOI: 10.14341/probl2017636369-378</mixed-citation><mixed-citation xml:lang="en">Zubkova N.A., Gioeva O.A., Tikhonovich Yu.V., Petrov V.M. et al. Clinical and molecular genetic characteristics of MODY1–3 cases in the Russian Federation as shown by NGS. Problems of Endocrinology. 2017;63(6):369–78. (in Russian). DOI: 10.14341/probl2017636369-378</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Glotov O.S., Serebryakova E.A., Turkunova M.E., Efimova O.A. et al. Whole-exome sequencing in Russian children with non-type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY-related and unrelated genes. Mol. Med. Rep. 2019;20(6):4905–14. DOI: 10.3892/mmr.2019.10751</mixed-citation><mixed-citation xml:lang="en">Glotov O.S., Serebryakova E.A., Turkunova M.E., Efimova O.A. et al. Whole-exome sequencing in Russian children with non-type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY-related and unrelated genes. Mol. Med. Rep. 2019;20(6):4905–14. DOI: 10.3892/mmr.2019.10751</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Ivanoshchuk D.E., Shakhtshneider E.V., Rymar O.D., Ovsyannikova A.K. et al. The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-associated genes among Western Siberia patients. J. Pers. Med. 2021;11(1):57. DOI: 10.3390/jpm11010057</mixed-citation><mixed-citation xml:lang="en">Ivanoshchuk D.E., Shakhtshneider E.V., Rymar O.D., Ovsyannikova A.K. et al. The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-associated genes among Western Siberia patients. J. Pers. Med. 2021;11(1):57. DOI: 10.3390/jpm11010057</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Matschinsky F.M. Glucokinase, glucose homeostasis, and diabetes mellitus. Curr. Diab. Rep. 2005;5(3):171–6. DOI: 10.1007/s11892005-0005-4</mixed-citation><mixed-citation xml:lang="en">Matschinsky F.M. Glucokinase, glucose homeostasis, and diabetes mellitus. Curr. Diab. Rep. 2005;5(3):171–6. DOI: 10.1007/s11892005-0005-4</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Steele A.M., Shields B.M., Wensley K.J., Colclough K. et al. Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA. 2014;311(3):279–86. DOI: 10.1001/jama.2013.283980</mixed-citation><mixed-citation xml:lang="en">Steele A.M., Shields B.M., Wensley K.J., Colclough K. et al. Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA. 2014;311(3):279–86. DOI: 10.1001/jama.2013.283980</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Pruhova S., Dusatkova P., Kraml P.J., Kulich M. et al. Chronic mild hyperglycemia in GCK-MODY patients does not increase carotid intima-media thickness. Int. J. Endocrinol. 2013;2013:718254. DOI: 10.1155/2013/718254</mixed-citation><mixed-citation xml:lang="en">Pruhova S., Dusatkova P., Kraml P.J., Kulich M. et al. Chronic mild hyperglycemia in GCK-MODY patients does not increase carotid intima-media thickness. Int. J. Endocrinol. 2013;2013:718254. DOI: 10.1155/2013/718254</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Wu H.X., Chu T.Y., Iqbal J., Jiang H.L. et al. Cardio-cerebrovascular outcomes in MODY, type 1 diabetes, and type 2 diabetes: a prospective cohort study. J. Clin. Endocrinol. Metab. 2023;108(11):2970–80. DOI: 10.1210/clinem/dgad233</mixed-citation><mixed-citation xml:lang="en">Wu H.X., Chu T.Y., Iqbal J., Jiang H.L. et al. Cardio-cerebrovascular outcomes in MODY, type 1 diabetes, and type 2 diabetes: a prospective cohort study. J. Clin. Endocrinol. Metab. 2023;108(11):2970–80. DOI: 10.1210/clinem/dgad233</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Овсянникова А.К., Шахтшнейдер Е.В., Иванощук Д.Е., Воевода М.И. и др. Течение сахарного диабета взрослого типа у молодых лиц старше 18 лет, обусловленного мутацией гена глюкокиназы (GCK-MODY): данные проспективного наблюдения. Сахарный диабет. 2021;24(2):133–40. DOI: 10.14341/DM12319</mixed-citation><mixed-citation xml:lang="en">Ovsyannikova A.К., Shakhtshneider E.V., Ivanoshchuk D.E., Voevoda M.I. et al. GCKMODY diabetes course in persons over 18 years of age: prospective observation. Diabetes Mellitus. 2021;24(2):133–40. (in Russian). DOI: 10.14341/DM12319</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Сечко Е.А., Кураева Т.Л., Зильберман Л.И., Лаптев Д.Н. и др. Неиммунный сахарный диабет у детей, обусловленный гетерозиготными мутациями в гене глюкокиназы (GCK-MODY): анализ данных 144 пациентов. Сахарный диабет. 2022;25(2):145–54. DOI: 10.14341/DM1281</mixed-citation><mixed-citation xml:lang="en">Sechko E.A., Kuraeva T.L., Zilberman L.I., Laptev D.N. et al. Nonimmune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients. Diabetes Mellitus. 2022;25(2):145–54. (in Russian). DOI: 10.14341/DM1281</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Stride A., Shields B., Gill-Carey O., Chakera A.J. et al. Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia. 2014;57(1):54–6. DOI: 10.1007/s00125-013-3075-x</mixed-citation><mixed-citation xml:lang="en">Stride A., Shields B., Gill-Carey O., Chakera A.J. et al. Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia. 2014;57(1):54–6. DOI: 10.1007/s00125-013-3075-x</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Delvecchio M., Pastore C., Giordano P. Treatment options for MODY patients: a systematic review of literature. Diabetes Ther. 2020;11(8):1667–85. DOI: 10.1007/s13300-020-00864-4.</mixed-citation><mixed-citation xml:lang="en">Delvecchio M., Pastore C., Giordano P. Treatment options for MODY patients: a systematic review of literature. Diabetes Ther. 2020;11(8):1667–85. DOI: 10.1007/s13300-020-00864-4.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Wang Z., Diao C., Liu Y., Li M. et sl. Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia. J. Diabetes Investig. 2019;10(4):963–71. DOI: 10.1111/jdi.13001</mixed-citation><mixed-citation xml:lang="en">Wang Z., Diao C., Liu Y., Li M. et sl. Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia. J. Diabetes Investig. 2019;10(4):963–71. DOI: 10.1111/jdi.13001</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Tatsi E.B., Kanaka-Gantenbein C., Scorilas A., Chrousos G.P. et al. Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy. Pediatr. Diabetes. 2020;21(1):28–39. DOI: 10.1111/pedi.12931</mixed-citation><mixed-citation xml:lang="en">Tatsi E.B., Kanaka-Gantenbein C., Scorilas A., Chrousos G.P. et al. Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy. Pediatr. Diabetes. 2020;21(1):28–39. DOI: 10.1111/pedi.12931</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Sanyoura M., Letourneau L., Knight Johnson A.E., Del Gaudio D. et al. GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants. Diabetes Res. Clin. Pract. 2019;151: 231–6. DOI: 10.1016/j.diabres.2019.04.017</mixed-citation><mixed-citation xml:lang="en">Sanyoura M., Letourneau L., Knight Johnson A.E., Del Gaudio D. et al. GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants. Diabetes Res. Clin. Pract. 2019;151: 231–6. DOI: 10.1016/j.diabres.2019.04.017</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Osbak K.K., Colclough K., Saint-Martin C., Beer N.L. et al. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum. Mutat. 2009;30(11):1512–26. DOI: 10.1002/humu.21110</mixed-citation><mixed-citation xml:lang="en">Osbak K.K., Colclough K., Saint-Martin C., Beer N.L. et al. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum. Mutat. 2009;30(11):1512–26. DOI: 10.1002/humu.21110</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Fendler W., Małachowska B., Baranowska-Jazwiecka A., Borowiec M. et al. Population based estimates for double diabetes amongst people with glucokinase monogenic diabetes, GCK-MODY. Diabet. Med. 2014;31(7):881–3. DOI: 10.1111/dme.12449</mixed-citation><mixed-citation xml:lang="en">Fendler W., Małachowska B., Baranowska-Jazwiecka A., Borowiec M. et al. Population based estimates for double diabetes amongst people with glucokinase monogenic diabetes, GCK-MODY. Diabet. Med. 2014;31(7):881–3. DOI: 10.1111/dme.12449</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Colclough K., Patel K. How do I diagnose maturity onset diabetes of the young in my patients? Clin. Endocrinol. 2022;97(4):436–47. DOI: 10.1111/cen.14744</mixed-citation><mixed-citation xml:lang="en">Colclough K., Patel K. How do I diagnose maturity onset diabetes of the young in my patients? Clin. Endocrinol. 2022;97(4):436–47. DOI: 10.1111/cen.14744</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">Овсянникова А.К., Дудина М.В., Галенок Р.Б., Антонова А.О. и др. Характеристики вариабельности глюкозы при разных типах сахарного диабета у лиц молодого возраста. Медицинский совет. 2023;17(9):74–80. DOI: 10.21518/ms2023-160</mixed-citation><mixed-citation xml:lang="en">Ovsyannikova A.K., Dudina M.V., Galenok R.B., Antonova A.O. et al. Characteristics of glucose variability in different types of diabetes mellitus in young patients. Medical Council. 2023;17(9):74–80. (in Russian). DOI: 10.21518/ms2023-160</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Бойцов С.А., Погосова Н.В., Аншелес А.А., Бадтиева В.А. и др. Кардиоваскулярная профилактика 2022. Российские национальные рекомендации. Российский кардиологический журнал. 2023;28(5):5452. DOI: 10.15829/1560-4071-2023-5452</mixed-citation><mixed-citation xml:lang="en">Boytsov S.A., Pogosova N.V., Ansheles A.A., Badtieva V.A. et al. Cardiovascular prevention 2022. Russian national guidelines. Russian Journal of Cardiology. 2023;28(5):5452. (in Russian). DOI: 10.15829/1560-4071-2023-5452</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
