Vol 29, No 9 (2022)

The need to introduce formulas into the diet of infants can be dictated by various reasons. The choice of the product that best meets the needs of the child is of great importance, because deficiency of certain nutrients can provoke disorders of growth, tissue differentiation, immune and endocrine system function, and have long-term negative consequences in the form of a decrease in cognitive potential, reproductive and other disorders. Insufficient balance in essential nutrients can cause significant harm to the organs of the child’s gastrointestinal tract, disrupt the formation of healthy microflora, create conditions for chronic inflammatory processes and allergic manifestations. This review provides better understanding of modern approaches to formula feeding and quick selection the optimal solution in each case.

The study of the pulmonary surfactant system has been going on for more than 60 years. During this period of time, the structure, functions, features of metabolism, factors affecting the qualitative and quantitative composition of the surfactant, as well as its changes in a number of diseases, have been established. Surfactant therapy is actively used not only for acute respiratory distress syndrome, but also for other bronchopulmonary pathologies. Due to the invaluable contribution of researchers of this problem, today we have successful results in the treatment of a whole list of diseases in children and adults. Currently, research of the pulmonary surfactant system is ongoing. The article describes in detail the stages of the study and application of surfactant.

Background. Support for women’s reproductive health is one of the most important directions in the development of healthcare in Russia, since the health of the younger generation depends on the health of expectant mothers. Objective. Optimization of pregravid preparation by using various micronutrient support regimens, taking into account the pharmacogenetic characteristics of patients. Methods. The observational study was carried out in the outpatient settings with participation of 194 women aged 20 to 38 years who applied for pregravid preparation. Depending on the corrective micronutrient support, patients were divided into 2 groups: group 1 received 451 pg metafolin with 2.6 pg cyanocobalamin; Group 2 received 400 pg folic acid. Genotyping of polymorphic loci MTHFR-677C>T, MTHFR-1298A>C, MTR-2756A>G, MTRR-66A>G was carried out by polymerase chain reaction. Quantitative analysis of the folate levels was performed by the chemiluminescence immunoassay. Against the background of micronutrient support for 3 months, the dynamics of the blood plasma folate was assessed. Descriptive statistics and analytical methods were used for analysis. Descriptive statistics of continuous quantitative data are presented as mean (M) and arithmetic mean error (±m). Statistical significance of differences was assessed using Student’s parametric test. Pearson’s χ2 test was used to assess the correspondence of genotype distributions and to compare the distributions of genotype frequencies in the samples. For non-normal distributions, group analysis was performed using the nonparametric Wilcoxon test and the Mann-Whitney test. Values were considered statistically significant at p≤0.05. Statistical analysis was carried out using the IBM SPSS Statistics 23.0 package. To calculate Pearson’s χ2, the Rstudio development environment version 1.0.143 for the R programming language was used. Results. It was found that both regimens were effective in women with normal genotypes: MTHFR-677CC, MTHFR-1298AA, MTR-2756AA, MTRR-66AA, in which there is no carriage of a rare allele and in women with a heterozygous variant of carriage of a rare allele with MTHFR-677CT, MTHFR -1298AC, MTR-2756AG, MTRR-66AG genotypes. In women with a homozygous carrier variant of a rare allele with MTHFR-677TT, MTHFR-1298CC, MTR-2756GG, MTRR-66GG genotypes, only the use of 451 pg metafolin with 2.6 pg cyanocobalamin provided effective micronutrient support. Conclusion. At the stage of pregravid preparation, genetic screening is advisable to identify rare alleles of polymorphisms of the genes of the main enzymes of the folate cycle. This provides a personalized approach to the micronutrient support regimen and optimal correction in order to effectively prevent congenital malformations and other complications of pregnancy.

Background. Based on the central role of interleukin-4 (IL-4) and -13 in the pathogenesis of allergic inflammation, monoclonal antibodies to immunoglobulin G4 that bind to IL-4Ra (dipilumab) and block both IL-4 and -13 signaling pathways are effective pathogenetic tool for controlling allergic inflammation in patients with bronchial asthma (BA). Objective. Evaluation of the efficacy and safety of dupilumab for 52 weeks in children with severe BA. Methods. In our study, the main criteria for initiation of dipilumab therapy were severe BA, age over 12 years for BA patients and/or over 6 years for patients with moderate-to-severe atopic dermatitis, treatment with medium- or high-dose inhaled glucocorticosteroids (IGCS) in combination with 1 or 2 add-on therapies (LABA, LTRA, LAMA); pre-bronchodilatory FEV1 ≤90% of expected values: c-ACT ≤19 points, FEV1 reversibility ≥12%. The study main endpoints included absolute change in pre-bronchodilatory FEV1 at 12 and 52 weeks from baseline; change in Children Asthma Control test (c-ACT) score at 12 and 52 weeks from baseline; annualized frequency of severe BA exacerbations leading to hospitalization or emergency call. Results. The results of study demonstrated the high therapeutic efficacy of the drug, proven by the dynamics of key indicators at the study endpoint. All three patients achieved control of the disease and a confident trend towards growth in indicators to the standard FEV1 values. After a year of therapy with dupilumab, there was a reduction in the volume of basic anti-inflammatory therapy to the second stage, characterized by the use of low-dose glucocorticosteroids as monotherapy. Conclusion. The experience of using pathogenetic therapy with dupilumab in children with severe BA in the Astrakhan region showed a positive effect both on the clinical picture of the disease and the risk of side effects that could lead to drug withdrawal. However, this is the first experience and it requires further monitoring of both existing and treated patients, as well as new ones, which will help to objectify the assessment of the effectiveness and safety of the drug.

Background. Commonly, a new coronavirus infection in the pediatric population is characterized by an asymptomatic or oligosymptomatic course, in contrast to adults. The most common symptoms of COVID-19 in children include fever, catarrhal signs, intoxication of varying severity. Objective. Analysis of the clinical course of a new coronavirus infection in children in outpatient settings. Methods. An analysis of 78 case histories of children with COVID-19 who were treated in the Penza City Children’s Polyclinic, Children’s Polyclinic № 3 from September 2020 to February 2021 was performed. Results. It was revealed that the mean age of patients was 8.8 years. There were 52 boys (66.7%), 26 girls (33.3%). Asymptomatic course was diagnosed in 10 (12.8%) children, mild severity - in 52 (66.7%), moderate severity - in 16 (20.5%) children. The mean duration of illness was 18.5 days. In children with moderate COVID-19 severity, broncho-obstructive syndrome with a protracted course dominated in the clinical picture. Conclusion. Coronavirus infection in children can occur with broncho-obstructive syndrome. The first episode of bronchial obstruction may be the debut of bronchial asthma, which requires dynamic monitoring by a pediatrician, consultation with an allergist-immunologist, and a comprehensive examination after a COVID-19 infection. Evaluation of the features of the course of the disease, as well as monitoring its long-term consequences, remains relevant today.

Background. Allergic rhinitis (AR) and adenoid hypertrophy (AH) are the most common diseases in young children, leading to severe nasal obstruction. The study of the immunopathogenesis of AR continues. The issues of the significance of various cytokines in AR and AH are discussed. Based on this, a personalized approach to the choice of treatment is being discussed. Objective. Evaluation of the interleukin-4 (IL-4), -5, -10, -8, -18 and tumor necrosis factor α (TNF-α) levels in the nasal secretion of children with AR and AH. Methods. A comprehensive clinical-laboratory and allergic-immunological examination of children diagnosed with AR, AH and their combination was carried out. Results. It was found that in children with AR and a combination of AR and AH, cytokines of the Th2 type of immune response dominate in the nasal secretion: IL-4, -5. The presence of AH does not affect the production of cytokines. Conclusion. A comparative analysis of cytokines has shown that AH can act as part of an allergic process with the formation of an allergic AH phenotype. In some children, AH can act as an independent disease, the immunopathogenesis of which requires further study.

Background. Children staying in institutions for orphans and children left without parental care are at risk for nutritional disorders and need regular monitoring of their nutritional status. Objective. Evaluation of the nutritional status of children living in organizations for orphans of various profiles. Methods. The study included 734 children living in 28 organizations for orphans in five regions of the Russian Federation: Nizhny Novgorod, Yaroslavl, Irkutsk regions, the Republic of Mordovia and the federal city of Sevastopol. Among the examined children, 342 children stayed in institutions of a general type (I group); 392 children - in specialized institutions for children with health problems (Group II). Questionnaire-survey, clinical and statistical research methods were used in the study. Results. An analysis of the food rations in institutions showed their compliance with the established requirements (Sanitary Rules and Regulations 2.3/2.4.3590-20). An analysis of the prevalence of chronic diseases in orphans and children left without parental care indicated a high proportion of pathologies accompanied by malnutrition. The leading pathologies in group I included mental disorders (23.4%), diseases of the digestive system (10%), food intolerance (6%), chronic infections (4%); in group II - mental illnesses (81%), diseases of the nervous system (37%); chromosomal abnormalities (19.6%) and congenital malformations (11.7%). According to the BMI Z-score criterion, malnutrition was determined in 1.8% of cases, the risk of malnutrition - in 16.7%, growth retardation - in 5% of children of group I. In group II, malnutrition was registered in 20.1% of children, the risk of malnutrition - in 23.7%, growth retardation - in 33.4% of the residents. The prevalence of overweight and obesity in group I was 14.9 and 4.1%, and in group II - 5.6 and 3.1%, respectively. Conclusion. Thus, children living in institutions for orphans are at risk for the formation of nutritional status disorders, mainly malnutrition, and require a differentiated approach to organizing and monitoring their nutrition.

Background. Interstitial lung diseases (ILDs) in children constitute a heterogeneous group of diseases characterized by damage to the respiratory structures and interstitial tissue of various etiologies. Regardless of the causes, these diseases are characterized by impaired gas exchange, clinical signs of respiratory failure due to progressive fibrotic changes in the lung tissue, and impaired blood flow in the alveolar capillaries. Objective. Analysis of the spectrum of ILDs in children in the Astrakhan region according to the data of the Department of Pulmonology of the Regional Children’s Clinical Hospital n.a. N.N. Silishcheva. Methods. The data on the variability of the nosological forms of ILDs, the features of the clinical picture, approaches to therapy and outcomes of diseases in children treated at Department of Pulmonology of the Regional Children’s Clinical Hospital n.a. N.N. Silishcheva from 2019 to 2021 were analyzed. During the study period, 167 children with various forms of ILDs were treated and examined in the Department, namely: 146 children diagnosed with bronchopulmonary dysplasia at the stage of revision of the diagnosis due to age-related transformation, 9 patients with ILDs due to heart defects and chromosomal abnormalities, 10 patients with hypersensitivity pneumonitis and 2patients with interstitial lung changes associated with an infectious process (post-COVID-19 syndrome). Results. For 2019-2021, 167 patients with various forms of ILDs underwent examination and treatment in the Department of Pulmonology of the Regional Children’s Clinical Hospital n.a. N.N. Silishcheva. It was found that out of 146 children diagnosed with bronchopulmonary dysplasia, 14 had a mild form, 72 had a moderate form, and 60 had a severe form of pathology. Over the past period, hypersensitivity pneumonitis was diagnosed in 10 children. Of the 9 patients with ILDs due to heart defects and chromosomal abnormalities, there were 4 patients with Down syndrome and 5 children with congenital heart defects (ventricular and atrial septal defects, tetralogy of Fallot, incomplete atrioventricular communication); in addition, there were 2 patients with ILDs associated with infectious process (post-COVID-19 syndrome). Conclusion. ILDs in the Astrakhan region are characterized by heterogeneity with the dominance of neonatal-specific forms. The incidence of diseases is significantly inferior to that in European countries.

Background. Congenital nephrotic syndrome (CNS) of the Finnish type is a genetic disease caused by a mutation in the gene responsible for the synthesis of the nephrin protein by podocytes. Description of the clinical case. The article presents a clinical case of CNS of the Finnish type in a 1.5-month-old child who has been sick since birth. Upon admission to the Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan on the 7th day of life, the child’s condition was severe due to nephrotic syndrome, hypovolemic disorders, neurological symptoms, and water and electrolyte disorders. A diagnostic search was performed, corrective therapy was prescribed. A molecular genetic study using the panel «Hereditary Kidney Diseases» revealed a mutation in the NPHS1 gene (CNS of the Finnish type). Conclusion. The tactics of management of CNS of the Finnish type is currently not fully defined. The described clinical case shows the severity of the course of the disease, as well as the complexity of managing a patient with this pathology.

Background. Hereditary metabolic diseases (HMDs) are monogenically inherited diseases caused by gene mutations, which control the synthesis of polypeptides (proteins) that perform various functions (structural, immune defense, enzymatic catalysis, transport). The classification of HMDs is varied. Among them are violations of the formation and utilization of energy - mitochondrial diseases (MDs). A special case of MD is the Leigh syndrome, which is discussed in this article. Description of the clinical case. The article presents a clinical observation of the onset of a mitochondrial disease (Leigh syndrome, subacute necrotizing encephalomyelopathy) in a boy aged 6 months. Conclusion. In clinical practice, it is necessary to be aware of HMDs, in particular mitochondrial pathologies, which are rare (the total incidence of MDs is 1:5000-1:10,000 liveborn infants). In this example, the “search" for a mitochondrial disease was prompted by increasing neurological symptoms combined with lactic acidosis.