In addition to type 1 and 2 diabetes mellitus (DM), endocrine disorders in children include hereditary forms of diabetes, such as maturity onset diabetes of the young (MODY). Since pathogenic mechanisms of chronic hyperglycemia in MODY are different from those in DM1 and DM2, it requires other therapeutic approaches. The diagnosis of MODY is confirmed by expensive molecular testing, such as next generation sequencing (NGS). Therefore, the strategy of choosing candidates for NGS is very important. Objective. To optimize the algorithm of choosing patients for NGS testing for DM type verification. Patients and methods. This study included 97 patients aged 1–18 years suspected of having MODY. We used NGS to confirm the diagnosis and identify polymorphisms in MODY-associated genes. Results. Fifty-three patients were found to have polymorphisms in MODY-associated genes, including GCK gene (MODY2) (n = 44), NHF1A gene (MODY3) (n = 8), and PAX4 gene (MODY9) (n = 1). Comparison of family histories of patients with MODY-associated polymorphisms and those in whom clinical diagnosis of MODY was not confirmed by NGS demonstrated significant differences: children with verified MODY were more likely to have first-degree relatives with some carbohydrate metabolism disorder (CMDs). Clinical, laboratory, and anthropometric parameters, as well as levels of insulin secretion and carbohydrate metabolism were similar in both groups. However, patients with non-confirmed MODY received insulin therapy more frequently than those with verified MODY as the majority of them were on a diet. Conclusion. NGS confirms the diagnosis of MODY in patients with different CMDs. A tailored approach should be used to choose patients for NGS to confirm MODY. Key words: monogenic diabetes mellitus in children, diabetes mellitus, next generation sequencing, GCK, HNF1A, MODY

Study Objective: To compare glycemia variability (GV), glycated hemoglobin (HbA1c) and time in range in paediatric patients with type 1 diabetes mellitus (DM1) with various baseline GV after the change from basal insulin detemir to insulin degludec. Study Design: Non-randomised controlled study. Materials and Methods. We examined 30 children with DM1 aged 5 to 17 years; duration of disease was at least 1 year. Patients were divided into two groups, depending on the rate of the coefficient of variability (CV): ≤ 36% — group 1, > 36% — group 2. Time in range, time above range and time below range as well as CV were evaluated on the basis of the standard outpatient glucose profile using glycemia monitoring programme with periodic scanning (flash monitoring) before and after the change of basal insulin. Study Results. After group 2 patients switched from insulin detemir to insulin degludec, we noted increased time in range (from 40.3 ± 11.5% to 62.4 ± 6.7%; р < 0.001), reduced time above range (from 53.7 ± 10.7% to 34.1 ± 6.6%; р < 0.001), CV (from 43.2 ± 5.4% to 37.0 ± 3.3%; р = 0.05), and HbA1c (from 9.4 ± 1.5% to 7.5 ± 0.7%; р < 0.05), with no time below range. Conclusion. In children with DM1 who were treated with basal insulin detemir and had high GV, switching to insulin degludec allows significant improvement of metabolic control without the risk of hypoglycaemia. Keywords: type 1 diabetes mellitus, glycemia variability, degludec, coefficient of variation, time in range.

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