Justification. In recent years, great progress in the treatment of cystic fibrosis has been associated with the use of pathogenetic therapy (since 2012 - in world practice, since 2020 in the Russian Federation). Against the background of the use of which the nutritional status, the functional state of the lungs improves, but there is no complete restoration of the impaired functions of the organs, in particular, the external secretory function of the pancreas is restored only in young children with the timely appointment of targeted therapy The purpose of the study: to increase the effectiveness of correction of enzyme replacement therapy by an individualized approach. Methods. 140 children (boys - 81, girls - 59) with MV aged from 1 year to 18 years (average age 12.9±4.8 years) were examined. The study was conducted in 2022 in the Department of Cystic Fibrosis Scientific and «Research Clinical Institute of Childhood of the Ministry of Health of the Moscow Region» (clinical base of the scientific and clinical Department of Cystic fibrosis Research Center for Medical Genetic). Inclusion criteria - diagnosis of cystic fibrosis, chronic pancreatic insufficiency, severe. Exclusion criteria - short bowel syndrome, exacerbation of the disease. The doses of pancreatin per day were evaluated using the calculation method: units/g of fat in food and intestinal syndrome before and after correction using an algorithm of an individualized approach to calculating enzyme therapy. The observation period is 3 months Design: single-center, prospective, comparative Results. The study showed that the majority of 82 patients (59%) in the general group received less than 2000 U/g of fat, which is less than the reference values (2000-4000 U/g). The median daily dose was 1500 U / g of fat, which can be attributed to the peculiarities of dosing and the need for pancreatin in the Russian pediatric population of patients with cystic fibrosis. The results are consistent with the data of recent studies indicating an acceptable dosage range of pancreatin 1000-4000 units / g of fat in food. In the course of the study, an algorithm for individualized correction of enzyme replacement therapy was developed and the effectiveness of this approach was shown. Conclusion. When calculating pancreatin for the fat content in food, the dose was below the recommended values of 2000-4000 units / g and amounted to 1500 units / g, which indicated that it did not meet the needs of children in enzymes and required individual correction. This served as the basis for the development of an algorithm for individualized correction of enzyme replacement therapy. The effectiveness of this approach using computer technology (inpatient program for doctors and mobile version for patients), in the form of reduction / relief of intestinal syndrome, is shown. To increase compliance and to train parents to control diet and enzyme replacement therapy, it is advisable to use computer programs and mobile applications to calculate the diet and dosage of pancreatin for each meal.

BACKGROUND:  Certain genes are involved in the regulation of nutrient and energy metabolism. The PPARGC1A and ACE genes, the products of which provide cellular energy metabolism, are actively studied not only in the development of relationships with the physical characteristics of individuals (sports results), but also in relation to pathological changes in the body, as a result of the appearance of metabolic products with altered physicochemical properties and parameters of functional activity, leading to various diseases (obesity, type 2 diabetes, insulin resistance, metabolic syndrome). AIM:  to conduct an associative search for genetic variants of the ACE (I/D) and PPARGC1A (G/A) genes with clinical phenotypes of obesity in children. MATERIALS AND METHODS:   The study included 177 children with obesity and 135 healthy children aged 5 to 18 years. The following were studied: nutritional status, lipid and carbohydrate metabolism parameters to conduct an associative search for genetic variants of the ACE (I/D) and PPARGC1A (G/A) genes with clinical phenotypes of obesity (OB). Testing of polymorphic variants of the ACE (I/D), PPARGC1A (PGC-1) genes was performed by PCR and RFLP analysis. RESULTS: In the sample of healthy children, the I/D and I/I genotype of the ACE gene and the A/A and G/A genotypes of the PPARGC1A gene are more common. In patients with obesity, the I/D genotype and the D allele of the ACE gene, and the G/A genotype of the PPARGC1A gene are more common. The G/G genotype and the G allele of the PPARGC1A gene in obesity were associated with metabolic syndrome and hypertriglyceridemia CONCLUSION:  The I/D genotype of the ACE gene was more common in obese patients, but no associations of the genotype with metabolic risks were found. The G/G genotype of the PPARGC1A gene was more common in obese patients and was associated with the risk of developing metabolic disorders and hypertriglyceridemia.

BACKGROUND: In recent decades, the life expectancy of patients with CF has increased, which leads to an increase in the frequency of conditions associated with impaired carbohydrate metabolism.AIM: to analyze the impact of cystic fibrosis-associated diabetes mellitus (CFDM) in children and adolescents on the course of cystic fibrosis according to the 2021 register of patients with cystic fibrosis of the Russian Federation (RF).MATERIALS AND METHODS: the data of the register of patients with cystic fibrosis of the Russian Federation for 2021 were analyzed. The study included 122 patients with diabetes mellitus requiring the use of insulin — 33 children (27%) and 89 adults (73%), the average age of children was 13.5±4.1, the average age of adult.patients aged 18 years and older was 27.4±6.6. To compare the course of cystic fibrosis in patients with and without diabetes mellitus, groups were formed that were comparable in age, gender, genotype — the group of patients without diabetes included 827 patients, 33 patients made up the group of patients with CFRD using insulin. Diagnostic criteria, indicators of respiratory function, microbiological status, nature of complications, volume of therapy were compared.RESULTS: Patients with CFRD have a lower FEV1 compared to children without diabetes mellitus — M±SD FEV1 (%) 85.2±27.5 in the group of patients without diabetes mellitus and M±SD FEV1 (%) 72.4±26.0 in patients with diabetes mellitus (p < 0.016), compared in the microbiological seeding groups — a trend towards more frequent chronic growth of Pseudomonas aeruginosa 54.50% versus 39.4% in the group without CFRD. An increase in MRSA was also more often detected — 9.1% compared with the group of children without diabetes — 3.1%. Antibacterial therapy is more commonly used — inhaled in 54.6% of patients without diabetes mellitus while children with CFRD received inhaled antibiotic therapy in 75.8% (p=0.017). There was a significant difference in the used antibacterial tablet therapy (p=0.013). A significant difference in the number of patients on oxygen therapy in the group with CFRD — 12.1%, versus 3.4% without CFRD (p=0.01) confirms a more severe course of cystic fibrosis in patients with CFRD.CONCLUSION: The prevalence of CFDM with the need for insulin therapy among children in the Russian Federation is 1.3%. Cystic fibrosis-associated diabetes mellitus significantly worsens the course of cystic fibrosis in terms of lung function, the growth of gram-negative and resistant flora, the presence of severe complications and the frequent use of antibiotic therapy, which is obviously associated with frequent exacerbations of the bronchopulmonary process in cystic fibrosis in patients with developed cystic fibrosis-associated diabetes mellitus.

In this article, we present the first experience of developing a software program in Russia for calculating the diet and insulin dose for patients with type 1 diabetes mellitus. The software includes a central database for medical specialists and a smartphone application for patients and their guardians. Calculations are performed using parameters individual to each patient: target glycemia, insulin sensitivity factor, carbohydrate coefficient, food intake at a certain period of day. The competitive advantage, compared to foreign analogues, consists in the possibility of calculating the amount of active insulin. The database contains data on the chemical composition of more than 2500 products. The smartphone application is being tested in the Endocrinology Department of the Scientifi c Research Institute of Childhood of the Ministry of Health of Moscow Oblast with the participation of young patients and their guardians. For the “doctor–patient” interaction, the possibility of data exchange in the mode of telemedicine technologies is ensured.

Introduction . Childhood obesity has reached pandemic proportions, yet it remains unclear how genetic factors regulating bone metabolism influence the development of obesity and its metabolic complications, as well as bone mineral density in this group of patients. Aim. To establish associations between polymorphic markers of the VDR, CALCR, and COL1A1 genes and clinical phenotypes of obesity and their impact on bone metabolism in children. Materials and methods . A total of 99 obese children (54.5% boys, mean age 12.7 ± 3.6 years) and 61 healthy children (control group) were examined. A clinical and anamnestic examination, nutritional status assessment, biochemical analysis (lipid profile, carbohydrate metabolism), dual-energy X-ray absorptiometry (DXA) of the lumbar spine, and molecular genetic typing of CALCR (c.1340 C>T), COL1A1 (c.104-441G>T), and VDR (ApaI, c.1206T>C) polymorphisms using PCR and RFLP analysis were performed. Statistical analysis was performed using the Pearson χ² test and odds ratio (OR) calculation. Result. Carriage of the CC genotype of the CALCR gene was associated with obesity (OR = 11.667; p = 0.014), metabolic syndrome (OR = 3.895; p = 0.031), elevated LDL (OR = 6.833; p = 0.025) and hypertriglyceridemia (OR = 5.679; p = 0.014). The TT genotype of VDR ApaI was 2.6 times more common in children with obesity (OR = 2.644; p = 0.040). The GT genotype of the COL1A1 gene was associated with metabolic syndrome (OR = 3.339; p = 0.045) and hyper-LDL (OR = 3.304; p = 0.031), and the TT genotype was associated with hypertriglyceridemia (OR = 6.750; p = 0.044). In patients with normal bone mineral density (Z-score from -1 to +1), the GT COL1A1 genotype was more common (OR = 3.334; p = 0.037), while the CC CALCR genotype was associated with increased BMD (Z-score > +1), which may be compensatory. Conclusion . Polymorphic variants of bone metabolism genes significantly contribute to obesity, metabolic syndrome, lipid metabolism disorders, and bone mineral density in children. Identifying genetic risk groups may facilitate personalized prevention of complications.

The literature review presents current data on psychological support for children with type 1 diabetes mellitus (T1DM) and their families. The epidemiology of T1DM in Russia, the problem of failing to achieve target glycemic control indicators, as well as psychological predictors of decompensation – diabetic distress, depressive and anxiety disorders, neurocognitive disorders, eating disorders, and family conflicts – are considered. It is emphasized that a single child may simultaneously have several predictors that mutually reinforce each other, which justifies the need for comprehensive screening of all psychological domains, rather than an isolated assessment of a single disorder. An overview of psychodiagnostic methods used in the treatment of T1DM in children is provided. The main psychological interventions are analyzed: cognitive-behavioral therapy, family-oriented therapy, acceptance and commitment therapy, and art therapy. It has been shown that family-centered approaches demonstrate the best results both in improving the psychological climate and in improving medical outcomes. It has been concluded that further research is needed to assess the effectiveness of dynamic family therapy at different stages of the disease, including the period of manifestation and long-term course of T1DM.