DIABETES OF THE YOUNG MODY – MOLECULAR BACKGROUND, CLINICAL FEATURES AND TREATMENT

Maturity-onset diabetes of the young (MODY) is a monogenic disorder with autosomal dominant inheritance. MODY rarely diagnosed form diabetes, its incidence, depending on population, estimated at 1-5% children diabetes. currently includes 14 forms different etiology. Each subtypes conditioned by mutation in one identified genes: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1. The most frequently recognized are mutations HNF1A (30-65%), GCK (30-60%), HNF4A (5-10%) and HNF1B (5%) genes. characterized following features: 1) mild fasting hyperglycemia, 2) onset symptoms before age 25, 3) lack autoantibodies against pancreatic beta-cell antigens features typical type 2 (insulin resistance, obesity). Individual spectrum clinical onset. gene cause mild, asymptomatic usually not requiring appropriate treatment. associated progressive β-cell dysfunction which may lead to microvascular complications, HNF1B- subtype there concomitant developmental abnormalities. In treatment MODY, subtype, diet, sulfonylureas or other oral hyperglycemic agents applied insulin therapy be required later life during pregnancy. Next-generation sequencing (NGS) technique using commercial panel used molecular diagnosis knowledge genetic etiology determination significant practical importance prognosis course disease, it allows selection optimal t reatment method, also basis for screening family members patient consueling.