MOLECULAR GENETIC AND CLINICAL VARIANTS OF MODY2 AND MODY3 IN CHILDREN IN UZBEKISTAN

Abstract

For a long time, it was believed that only type 1 diabetes mellitus (DM1) was characteristic of childhood. However, it is now known that other types of diabetes occur in childhood and adolescence, among which the most common are type 2 diabetes (T2DM), as well as monogenic forms of diabetes, which include MODY (maturityonset diabetes of the young - adult diabetes type in young people), neonatal diabetes and some other forms. In most European countries, T1DM accounts for more than 90% of diabetes cases in childhood and adolescence, with incidence ranging from 0.1 to 57.6 per 100,000 children [1]; in the Republic Uzbekistan it is 12.43 per 100,000 children [2]. T2DM and monogenic forms of diabetes are much less common. The prevalence of monogenic diabetes in the UK is 10.8:100,000 [3]. Recent independent studies have shown that in children and adolescents. The increasing frequency of monogenic forms of diabetes is 1.1–4.2% of all forms of diabetes, the prevalence in the population is 2.1–4.6:100,000 [4–6]. To date, 13 genes are known that lead to the development of MODY. The most common forms of this pathology are MODY2 and MODY3, which are caused by mutations in the genesGCKAndHNF1αrespectively. The “gold standard” for diagnosing MODY is the identification of mutations through molecular genetic testing. At the stage of clinical examination, it is important to suspect this form of diabetes based on the characteristics of the disease in order to refer the patient for a molecular genetic study. The clinical course may not fit into the classical characteristics of this form of diabetes; only 50% of patients with genetically confirmed MODY have a course of the disease that meets its classical criteria [3]. It remains relevant to study the variability of the clinical course and laboratory characteristics of MODY, primarily its most common subtypes - MODY2 and MODY3.