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<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">diaendo</journal-id><journal-title-group><journal-title xml:lang="ru">Сахарный диабет</journal-title><trans-title-group xml:lang="en"><trans-title>Diabetes mellitus</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2072-0351</issn><issn pub-type="epub">2072-0378</issn><publisher><publisher-name>Endocrinology research centre</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.14341/DM12807</article-id><article-id custom-type="elpub" pub-id-type="custom">diaendo-12807</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 случай</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>Case report</subject></subj-group></article-categories><title-group><article-title>Сахарный диабет MODY, обусловленный мутацией в гене инсулина</article-title><trans-title-group xml:lang="en"><trans-title>MODY caused by a mutation in the insulin gene</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-8181-5572</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сечко</surname><given-names>Е. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Sechko</surname><given-names>E. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Сечко Елена Александровна - кандидат медицинских наук; eLibrary SPIN: 4608-5650/</p><p>117292, Москва, ул. Дм. Ульянова, д. 11</p></bio><bio xml:lang="en"><p>Elena A. Sechko - MD, PhD; eLibrary SPIN: 4608-5650</p><p>11 Dm. Ulyanova street, Moscow 117292</p></bio><email xlink:type="simple">elena.sechko@bk.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/0000-0003-4950-3920</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кураева</surname><given-names>Т. Л.</given-names></name><name name-style="western" xml:lang="en"><surname>Kuraeva</surname><given-names>T. L.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кураева Тамара Леонидовна - доктор медицинских наук, профессор; eLibrary SPIN: 8206-0406.</p><p>Москва</p></bio><bio xml:lang="en"><p>Tamara L. Kuraeva - MD, PhD, Professor; eLibrary SPIN: 8206-0406/</p><p>Moscow</p></bio><email xlink:type="simple">diabetkuraeva@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/0000-0002-6611-8170</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Андрианова</surname><given-names>Е. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Andrianova</surname><given-names>E. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Андрианова Екатерина Андреевна - кандидат медицинских наук; eLibrary SPIN: 7496-4580.</p><p>Москва</p></bio><bio xml:lang="en"><p>Ekaterina A. Andrianova - MD, PhD; eLibrary SPIN: 7496-4580</p><p>Moscow</p></bio><email xlink:type="simple">katandr13@list.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/0000-0002-0316-8314</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Зильберман</surname><given-names>Л. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Zilberman</surname><given-names>L. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Зильберман Любовь Иосифовна - кандидат медицинских наук; eLibrary SPIN 4488-7724.</p><p>Москва</p></bio><bio xml:lang="en"><p>Lubov I. Zilberman - MD, PhD; eLibrary SPIN 4488-7724.</p><p>Moscow</p></bio><email xlink:type="simple">zilbermanl@yandex.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/0000-0002-3742-0231</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Емельянов</surname><given-names>А. О.</given-names></name><name name-style="western" xml:lang="en"><surname>Emelyanov</surname><given-names>A. O.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Емельянов Андрей Олегович - кандидат медицинских наук; eLibrary SPIN: 8110-5540.</p><p>Москва</p></bio><bio xml:lang="en"><p>Andrey O. Emelyanov - PhD; eLibrary SPIN: 8110-5540.</p><p>Moscow</p></bio><email xlink:type="simple">endiab@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/0000-0002-4316-8546</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Лаптев</surname><given-names>Д. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Laptev</surname><given-names>D. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Лаптев Дмитрий Никитич - доктор медицинских наук; eLibrary SPIN: 2419-4019.</p><p>Москва</p></bio><bio xml:lang="en"><p>Dmitry N. Laptev - PhD; eLibrary SPIN: 2419-4019.</p><p>Moscow</p></bio><email xlink:type="simple">laptevdn@ya.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/0000-0001-9621-5732</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Безлепкина</surname><given-names>О. Б.</given-names></name><name name-style="western" xml:lang="en"><surname>Bezlepkina</surname><given-names>O. B.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Безлепкина Ольга Борисовна - доктор медицинских наук, профессор; eLibrary SPIN: 3884-0945.</p><p>Москва</p></bio><bio xml:lang="en"><p>Olga B. Bezlepkina - MD, PhD, Professor; eLibrary SPIN: 3884-0945.</p><p>Moscow</p></bio><email xlink:type="simple">Olgabezlepkina@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Национальный медицинский исследовательский центр эндокринологии</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Endocrinology Research Centre</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2022</year></pub-date><pub-date pub-type="epub"><day>23</day><month>03</month><year>2022</year></pub-date><volume>25</volume><issue>1</issue><fpage>89</fpage><lpage>94</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Сечко Е.А., Кураева Т.Л., Андрианова Е.А., Зильберман Л.И., Емельянов А.О., Лаптев Д.Н., Безлепкина О.Б., 2022</copyright-statement><copyright-year>2022</copyright-year><copyright-holder xml:lang="ru">Сечко Е.А., Кураева Т.Л., Андрианова Е.А., Зильберман Л.И., Емельянов А.О., Лаптев Д.Н., Безлепкина О.Б.</copyright-holder><copyright-holder xml:lang="en">Sechko E.A., Kuraeva T.L., Andrianova E.A., Zilberman L.I., Emelyanov A.O., Laptev D.N., Bezlepkina O.B.</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://www.dia-endojournals.ru/jour/article/view/12807">https://www.dia-endojournals.ru/jour/article/view/12807</self-uri><abstract><p>MODY10 — это редкий подтип MODY-диабета, развитие которого обусловлено гетерозиготными мутациями в гене инсулина INS. В литературе имеются единичные описания семей с MODY-INS или MODY10, клиническое течение его мало изучено. Мы представляем случай MODY10 у мальчика с отягощенной наследственностью по сахарному диабету (СД) в трех поколениях (у отца и бабушки по отцовской линии). СД у пробанда был диагностирован в возрасте 7 лет. Уровень глюкозы крови при манифестации заболевания 10,2 ммоль/л, гликированного гемоглобина — 7,6%, антитела к островковым клеткам (ICA), инсулиновые (IAA), к глутаматдекарбоксилазе (GADA) и к тирозинфосфатазе (IA2) не обнаружены. По результатам перорального глюкозотолерантного теста отмечалось повышение уровня глюкозы крови натощак до 6,5 ммоль/л, на 120-й минуте — до 10,3 ммоль/л, что соответствовало диагнозу «нарушение толерантности к глюкозе». Рекомендовано соблюдение диеты с ограничением легкоусвояемых углеводов, затем в терапию добавлен гликлазид, который пробанд получал в течение 3 лет. С 10-летнего возраста стало отмечаться ухудшение показателей углеводного обмена, потребовавшее назначения инсулинотерапии. При обследовании в возрасте 12 лет выявлено снижение секреции С-пептида. У отца ребенка аналогичный фенотип — медленно прогрессирующие нарушения углеводного обмена с 6 лет, с 10 лет — инсулинотерапия. При молекулярно-генетическом исследовании у ребенка и его отца выявлена ранее не описанная гетерозиготная мутация в гене инсулина INS p.C31W. Таким образом, в нашем клиническом случае MODY10 характеризовался более мягким, чем СД 1 типа, течением, однако приводящим со временем к развитию потребности в инсулине, что отличает его от наиболее распространенных форм MODY. В настоящее время не существует специфической терапии, и выявление мутации в гене INS не оказывает влияния на терапевтическую тактику, однако правильный генетический диагноз позволяет прогнозировать течение диабета и проводить генетическое консультирование семьи.</p></abstract><trans-abstract xml:lang="en"><p>MODY10 is a rare subtype of MODY diabetes, which caused by heterozygous mutations in the insulin gene INS. There are single descriptions of families with MODY-INS or MODY10 in the literature, its clinical course is not well understood. We present a case of MODY10 in a boy with a history of diabetes mellitus (DM) in three generations (father and paternal grandmother). Proband was diagnosed with diabetes mellitus at the age of 7 years. The glycaemia at the onset of the diabetes was 10.2 mmol/l, HbA1c — 7.6%, islet cell autoantibodies (ICA), insulin autoantibodies (IAA), glutamic acid decarboxylase antibodies (GADA) and islet tyrosine phosphatase 2 (IA2) antibodies (IA2) were not detected. According to the results of the oral glucose tolerance test, fasting blood glucose was 6.5 mmol/l, in 120 minutes 10.3 mmol/l, which corresponded to the diagnosis of impaired glucose tolerance. Diet with restriction of easily digestible carbohydrates was recommended, than gliclazide was added to the therapy, which the proband received for 3 years. At the age of 10, a deterioration in the parameters of carbohydrate metabolism was noted, which insulin therapy was added. Examination at the age of 12 revealed a decrease in C-peptide secretion. The child’s father has a similar phenotype — slowly progressive disorders of carbohydrate metabolism from 6 years old, from 10 years old — insulin therapy. A genetic test was provided, in the child and his father was detected a previously undescribed heterozygous mutation in the INS p.C31W. Thus, in our clinical case, MODY10 was characterized by a milder course than T1DM, but eventually leading to the development of insulin demand, which distinguishes it from the most common forms of MODY. Currently, there is no specific therapy, and the detection of a mutation in the INS gene does not affect therapeutic tactics, however, a correct genetic diagnosis makes it possible to predict the course of diabetes and provide genetic counseling to the family.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>ген INS</kwd><kwd>моногенный сахарный диабет</kwd><kwd>MODY</kwd><kwd>сахарный диабет у детей и подростков</kwd></kwd-group><kwd-group xml:lang="en"><kwd>gene INS</kwd><kwd>monogenic diabetes mellitus</kwd><kwd>MODY</kwd><kwd>diabetes mellitus in children and adolescents</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Исследование выполнено в рамках государственного задания «Персонализированный подход к прогнозированию развития и дифференциальной диагностике сахарного диабета 1 типа у детей и подростков», регистрационный номер АААА-А20-120012190131-9, национальной благотворительной программы помощи детям с эндокринными заболеваниями «Альфа-Эндо» при финансовой поддержке фонда «КАФ»</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Hattersley AT, Greeley SAW, Polak M, et al. 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