Almanac of Clinical MedicineAlmanac of Clinical Medicine2072-05052587-9294Moscow Regional Research and Clinical Institute (MONIKI)101510.18786/2072-0505-2019-47-021Mutations in the HNF1A gene as a cause of MODY3: a clinical caseDemidovaT. Yu.<p><span><strong>Tatiana Yu. Demidova</strong> – </span><span class="s43">MD</span>, PhD, Professor, Faculty of General Medicine, Head of the Endocrinology Department,</p><p><em>1 Ostrovityanova ul., Moscow, 117997</em></p>fake@neicon.ruGritskevichE. Yu.<p><span><strong>Elena Yu. Gritskevich</strong> – </span><span class="s43">Assistan</span>, Faculty of General Medicine, Endocrinology Department,</p><p><em>14/1–157 Akademika Pilyugina ul., Moscow, 117393</em></p>genyan.7@mail.ruBalutinaO. V.<p><span><strong>Olga V. Balutina</strong> – </span><span class="s43">Resident</span>, Faculty of General Medicine, Endocrinology Department,</p><p><em>1 Ostrovityanova ul., Moscow, 117997</em></p>fake@neicon.ruPirogov Russian National Research Medical University (RNRMU)310520194721801851305201913052019Copyright © 2019, Demidova T.Y., Gritskevich E.Y., Balutina O.V.2019Genetic dysfunction of the pancreatic β-cells and/ or factors participating in glucose metabolism can form the bases for monogenic types of diabetes mellitus. Diagnosis of MODY type of diabetes is difficult due to its rare identification in the real clinical practice and to the necessity of molecular genetic testing for the confirmation of specific mutations. Errors in the diagnosis of diabetes mellitus may be misleading for the choice of hypoglycemic treatment, which is the key problem in the management of these patients. In the clinical case described, the diagnosis of MODY3 related to the mutations in the HNF1A transcriptional factor was confirmed during pregnancy of the patient, i.e. more than 15 years had passed from manifestation of the disease in childhood, despite typical clinical symptoms and specific familial history. Optimization of the early diagnosis and management of this patient cohort can be facilitated by accumulation of theoretical knowledge and practical experience, as well as improvement of diagnostic capacities, including higher availability of molecular genetic analysis.diabetes mellitusMODYgenetic testingmutationсахарный диабетMODYмолекулярно-генетическое исследованиемутация[1. Anık A, Çatlı G, Abacı A, Böber E. Maturity-onset diabetes of the young (MODY): an update. J Pediatr Endocrinol Metab. 2015;28(3–4):251– 63. doi: 10.1515/jpem-2014-0384.][2. Shih DQ, Stoffel M. Dissecting the transcriptional network of pancreatic islets during development and differentiation. Proc Natl Acad Sci U S A. 2001;98(25):14189–91. doi: 10.1073/pnas.251558998.][3. Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat. 2013;34(5):669–85. doi: 10.1002/humu.22279.][4. Кураева ТЛ, Сечко ЕА, Еремина ИА, Иванова ОН, Прокофьев СА. Особенности течения MODY3 у ребенка с фенотипом сахарного диабета 2 типа. Сахарный диабет. 2013;16(2):88–93. doi: 10.14341/2072-0351-3762.][5. Stride A, Ellard S, Clark P, Shakespeare L, Salzmann M, Shepherd M, Hattersley AT. Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. Diabetes Care. 2005;28(7):1751–6. doi: 10.2337/diacare.28.7.1751.][6. Pontoglio M, Prié D, Cheret C, Doyen A, Leroy C, Froguel P, Velho G, Yaniv M, Friedlander G. HNF1alpha controls renal glucose reabsorption in mouse and man. EMBO Rep. 2000;1(4):359–65. doi: 10.1093/embo-reports/kvd071.][7. Зильберман ЛИ, Кураева ТЛ, Петеркова ВА. Федеральные клинические рекомендации по диагностике и лечению моногенных форм сахарного диабета у детей и подростков. М.; 2013. [Интернет]. Доступно на: https://www.endocrincentr.ru/sites/default/files/specialists/science/clinicrecomendations/mno.pdf.][8. Mikuscheva A, Mekhail A, Wheeler BJ. Pregnancy complicated by maternal MODY 3 and paternal MODY 2 diabetes and subsequent rapidly falling insulin requirement. Case Rep Obstet Gynecol. 2018;2018:9451061. doi: 10.1155/2018/9451061.]