The children’s health is one of the most sensitive indicators of the environmental condition. A clear connection of the structure of the child morbidity with the ecological characteristics of the region of residence has been registered. Thus, the general child morbidity, risk to develop the congenital anomalies, chromosomal and genetic diseases, allergic, chronic neuropsychic, oncological and many other diseases are increased in the environmentally unfriendly regions. The hardest part is to identify and isolate from the multiple factors those chemical, physical or biological agents that affect negatively the human health. It is possible to observe the close connection of the wide range of the demographic and epidemiological indicators with the environmental pollution. However, to determine this connection with the action of the certain environmental, anthropogenic factors or their combinations is rather a challenging task. The lack of a single unified, publicly available sociological, medical and environmental monitoring does not allow to assess to the full extent the medical efficiency of the environmental measures, and, therefore, to justify the preventive measures to reduce the level of the eco-dependent pathology in the children.

Due to the worldwide genetic research, the fundamental information was obtained regarding the pathogenesis of the hormone-resistant congenital and infantile nephrotic syndrome in children. The mutations in the genes encoding the main components of the basement membrane of the kidney glomeruli, structural and functional podocyte proteins are responsible for the development of the congenital and infantile nephrotic syndrome with the typical histologic pattern of the diffuse mesangial sclerosis or focal segmental glomerulosclerosis. In accordance with the evidence-based international strategy, the clinical phenotyping combined with the targeted genetic analysis is the diagnosis standard for the hereditary nephrotic syndrome in children that are recommended to perform the genetic analysis prior to start of the steroid therapy and prior to the kidney biopsy. The early genetic diagnosis assures the personalized approach to the choice of the therapies considering the genotype and phenotype specifics of the congenital or infantile nephrotic syndrome in the particular child. The up-to-date strategy for the management of such children provides the carrying out of the conservative therapy and early transplantation of the related kidney when reaching 10-15 kg body weight (in this case, the kidneys are removed and transplanted during the same surgery), or the bilateral nephrectomy simultaneously or one stepped, then the second kidney and peritoneal dialysis, then kidney transplantation for the children reached 10-15 kg body weight. According to ESPN / ERA-EDTA register (2016), the 5-year survival rate of the children with the congenital nephrotic syndrome caused by NPHS1 gene mutation is 91% after kidney transplantation, 89% after allograft. The solutions for the pressing challenge of the domestic pediatrics are as the following: introduce the international strategy into the practice of the children management with the congenital and infantile nephrotic syndrome with the new possibilities of the genetic diagnosis and therapy replacing the kidney function; enhance the kidney transplantation and its availability; carry out the epidemiological studies of the hereditary nephrotic syndrome.

The Wilson–Konovalov disease is the autosomal recessive hereditary disease caused by ATP7B gene mutation. With the mutations of the gene specified, the copper transport is disrupted, which causes its accumulation in the liver cells and neuroglia of the brain. The copper accumulation in the nervous tissue is observed in the period from the first to the fifth decade of life. In addition, this disease affects the metabolism of iron, which accumulates in the astrocytes and macrophages. The accumulation of these metals leads to the morphological changes in the glial cells, as follows: changes in the shape of astrocytes, formation of the transition types of microglia and increase in its size, and edema of the oligodendroglia, and in the severe cases, the decrease in the number of the neurons and destruction of the myelinated fibers.

The Article provides the literature data on the possibilities to use the intestinal protein binding the fatty acids as the diagnostic marker for the intestinal injuries of different etiology. Aspects of the marker use for the celiac disease are considered. The information on the results of use of the various diagnostic techniques for the celiac disease compared with the definition of the intestinal protein binding the fatty acids is presented.

Rationale. The congenital malformations are the important indicator of the environmental condition, and the anthropogenic pollution of the atmosphere effects strongly the incidence of malformations in the newborns.
Purpose of the Study. It is the study of the cause-and-effect relationship between the incidence of malformations in newborns and anthropogenic atmospheric pollutants using the correlation and variance methods, and the development of the mathematical models to predict the formation of the congenital malformations depending on the specific pollutants.
Material and methods. The correlation and variance methods were used to study the relationships of the main anthropogenic atmospheric pollutants with the incidence of the congenital malformations in all newborns in Belgorod city in 2000–2015. The predictive models were developed based on the regression method.
Results. The most effect of the excess of the maximum allowable average daily concentrations of ammonia and carbon monoxide in the atmosphere on the prevalence of the congenital malformations of various systems and organs was determined with 11 reliable correlations with the congenital malformations studied and those in general. According to the results of the analysis of variance, the maximum level of the combined effect of the anthropogenic air pollutants was revealed for the congenital malformations of the musculoskeletal system (95.69%), face and neck (94.66%), central nervous system (92.31%), digestive system (93.76%).
Conclusion. The regression models created at the level required assure the prediction of the various forms of the congenital malformations depending on the anthropogenic pollutants.

The Alport’s syndrome is the hereditary multisystem disease characterized by the development of the progressive nephropathy. The early diagnosis and subsequent prescription of nephroprotective therapy improves significantly the nephrological prognosis.
Purpose of the Study. Determine the value of the immunohistochemical method for the Alport’s syndrome diagnosis.
Material and methods. The clinical, laboratory and morphological data of 35 patients with suspected Alport’s syndrome (13 years of age [11; 16]; 18 boys and 17 girls) examined in the Nephrology Department in 2013–2019 were summarized. The study of the renal tissue included the light, immunofluorescence, electron microscopy of the kidney biopsy sample, determination of the expression of α1, α3 and α5 chains of type IV collagen in the renal glomeruli using the immunohistochemical method; the genetic testing was carried out for 26 patients. The children were divided into groups depending on the glomerular expression of α5 chain of type IV collagen: normal (group 1, n=18), decreased (group 2, n=4), negative (group 3, n=13). Results are as the following: The disorder of the expression of α5 chain was detected in ¾ (q = 0.78) patients with genetically confirmed Alport’s syndrome and in almost all children with the X-linked variant of the disease (q = 0.94).
Results. Based on the genetic testing, the Alport’s syndrome was confirmed in ¼ of the children of the 1st group (the children with the heterozygous variants of COL4A3, COL4A5 genes) and in all children of the 2nd and 3rd groups (COL4A5 variants). The sensitivity/ specificity of the immunohistochemical study for the Alport’s syndrome diagnosis was 78% /100%, that of the electron microscopy – 93% /87%. The predictive value of the positive/negative result of the immunohistochemical study was 100% /66%, that of the electron microscopy – 95% / 88% compared with 100% / 88% with the combine use of two methods.
Conclusion. The determination of the expression of α5 chain of type IV collagen in the renal glomeruli has the independent diagnostic value, but it is inferior to the electron microscopy in the heterozygous variants of the Alport’s syndrome. The high specificity of the immunohistochemical method makes it possible to confirm the Alport’s syndrome in the case of the change in the expression of α5 chain of type IV collagen in the renal glomeruli.

A number of the immunochemical markers of inflammation in the blood serum, such as the lactoferrin, transferrin, ferritin, and fibrinogen were identified in 450 patients with the viral meningitis of various etiologies (enterovirus, arbovirus, mumps, adenovirus, and herpesvirus) at 14 years of age. The imbalance of the inflammation markers identified was determined, the severity of which depended on the severity, course and outcome of the disease. The decrease of the lactoferrin concentration by 29% (from 719 to 516 ng/ml) and increase of the ferritin level by 30% (from 70 to 91 ng/ml) by the period of the early convalescence met the heavy severity level of the meningitis. The decrease of the lactoferrin concentration by 2% (from 785 to 770 ng/ml) and increase of the ferritin level by 45% (from 68 to 99 ng/ l) by the period of early convalescence indicated the lingering course of the disease. The concentrations of the transferrin less than 2 g/l (1.74 to 1.68 g/l) and ferritin less than 50 ng/ml (40 to 48 ng/ml) were unfavorable prognosis of for the meningitis outcome.

The purpose of the study: analysis of medical and social problems and factors affecting the availability and compliance of a gluten-free diet, based on a survey of parents of children with celiac disease living in southern Russia.
Purpose of the Study: Analysis of the medical and social problems and factors affecting the availability and adherence to the gluten-free diet based on the results of the questioning survey of the parents of children with celiac disease that are residents of the south of Russia. Children Characteristics and Study Methods. The study include 200 families that bring up the children with the celiac disease at the ages from 10 months to 18 years. The patients included 116 (58%) girls and 84 (42%) boys. The medical and social issues were studied using the developed questionnaire consisting of the open questions and intended as self-administered by the patient parents.
Results. 87% of the families noted the significant difficulties in adhering to the diet, 75% were forced to refuse to travel with children, 56% of the surveyed were unable to visit the public spaces, restaurants, and 90% indicated the impossibility and difficulties in purchase of the gluten-free products. The strict adherence to the diet at school age is much worse. The main reasons for the deliberate non- adherence to the gluten-free diet are the high cost of food, lack of funds to purchase it. The patient families spend RUB 8,000– 9,000 per month in average to purchase the gluten-free products. There is a great demand of patients for the imported products with the relevant quality marks. The psychological symptoms were noted in the patients with celiac disease in response to the introduction of the gluten-free diet, manifested by the depression, aggression, irritability, high level of the anxiety.
Conclusion. The main difficulties faced by the families that bring up the children and adolescents with the celiac disease include the social and psychological maladjustment of the patients, reduced finances, search and purchase of the high-quality gluten-free products and the necessity to adapt the child and family members to the dietary habits.

The analysis of the consolidated health assessments was carried out for 1,687 athletes – representatives of 52 sports of the national junior teams of Russia, based on the results of the in-depth health screening at the premises of Children’s Central Clinical Hospital of Federal Medical and Biology Agency of Russia in 2018. Due to the various reasons, 399 (23.6%) athletes temporarily or permanently were withdrawn from the sports. The most common reason (36%) for the temporary or permanent withdrawal from the sports was the pathology of the cardiovascular system. In its structure, the leading position is occupied by the stress cardiomyopathy – the condition caused by the physical and emotional overload of the athlete.

Some of the severe manifestations of Werdnig-Hoffmann disease are the pseudobulbar and bulbar syndromes complicated by the hypotrophy of the various degrees of severity. The clinical case of the nutritional support for the child with grade II hypotrophy that complicated the course of Werdnig–Hoffmann disease in one-year-old child is presented. The purpose of this study is to assess the effect of Clinutren Junior high-calorie formula for children from 1 to 10 years of age on the growth and development of the child diagnosed with type I spinal muscular atrophy. The results were analyzed according to the degree of change in the following anthropometric data: mid-arm circumference, mid-hip circumference, the size of the skin fold in the periumbilical region, as well as laboratory data, as follows: albumin, total protein, lymphocytes.

The Bardet–Biedl syndrome is a rare autosomal recessive disease of the group of ciliopathies with polymorphic clinical symptoms including the retinal degeneration, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction. The Pleiotropic effects are caused by the defects in genes encoding the proteins responsible for the functioning of cilia. The Article addresses the issues of the clinical features, diagnosis, differential diagnosis and treatment of this disease. The clinical case demonstrates the patient with Bardet–Biedl syndrome, manifested by the retinal degeneration, obesity, brachydactylia, syndactyly and clinodactyly, hypogenitalism, mental retardation and concomitant hypothyroidism. As per results of the molecular genetic testing, the child was found having the mutations in exon 2 of BBS10 gene c.271dupT and c.583G> A (p.G180E) in the compound heterozygous condition, inherited from the father and mother, respectively, that are the healthy carriers.

The Ehlers-Danlos syndrome is a rare (orphan) disease characterized by the connective tissue dysplasia, fragility of the blood vessels and tissues, and variable clinical pattern. The vascular type of Ehlers-Danlos syndrome, which belongs to Group A according to the classification of 2017, is caused by the mutations in gene of alpha-1 chain of type III collagen COL3A1. The disease is characterized by the high mortality rate of the patients due to the spontaneous ruptures of the vascular walls and hollow viscera. The International Consortium (2017) developed the criteria for the clinical diagnosis of the vascular type of Ehlers – Danlos syndrome.
The clinical case of the 16-year-old male patient with vascular type of Ehlers – Danlos syndrome is presented. The molecular genetic testing revealed in the child the previously described pathogenic mutation of splice site p.Gly798_Pro815del of COL3A1 gene associated with the severe course of the disease. In spite of the set of therapy measures aimed at the vascular reinforcement, stimulation and normalization of energy and mineral metabolism, the death occurred in 10 months due to the rupture of the aorta and renal artery. The Conclusion of the forensic medical examination is presented. The results of the care presented indicate that in order to avoid the omission of patients, it is advisable to revise the minimum set of signs required for the clinical diagnosis.

Disorders of lipid metabolism in endocrine diseases are a frequent occurrence in the daily practice of a doctor and usually have secondary nature. In thyrotoxicosis they have normal or decreased level of total cholesterol and low-density lipoproteins. A clinical case of a patient with thyrotoxicosis, hypercholesterolemia and hypertriglyceridemia is presented. The clinical and laboratory results of the study of the child and his parents are presented. DNA testing was conducted to clarify the diagnosis and conduct differential diagnosis of dyslipidemia type. This case shows difficulties in the diagnostic search for the etiology of dyslipidemia and its correction.

The neonatal hyperammonemia is the pathological condition that occurs during the neonatal period; it is characterized by the increased content of the free ammonium ions in the blood, and it causes the severe neurological disorders. The hyperammonemia in the newborns is one of the manifestations of a wide range of both primary (hereditary) and secondary metabolic disorders. Depending on the specific cause, the hyperammonemia in the neonatal period can be of the persistent or transient nature. As a rule, the clinical signs of this condition are nonspecific. The neurological disorders of the varying severity are noted, as follows: CNS (central nervous system) excitement or depression syndrome, episodes of apnea, diffuse muscular hypotonia, convulsive disorder and coma. The hyperammonemia can be accompanied by the respiratory disorders, and it can cause the development of the multiple organ failure that resembles the clinical symptom complex of the sepsis. The severity of brain damage correlates with the degree of increase in the ammonia concentration and hyperammonemia duration. Early diagnosis of the hyperammonemia allows to save the child’s life, to prevent the severe neurological consequences and to reduce the risk of disability. Moreover, the identification of the hereditary metabolic diseases accompanied by the hyperammonemia determines the necessity to carry out the genetic counselling of the family, as well as the prenatal and preimplantation genetic diagnosis.

Purpose of the Study: assessment of the course and outcomes of the lupus nephritis in children; determination of the efficiency of use of the angiotensin-converting enzyme inhibitors for the lupus nephritis.
Children Characteristics and Study Methods. Over a 20-year period, we analyzed the data of 36 children with the systemic lupus erythematosus and lupus nephritis at the ages from 5 to 17 years.
Results. In 72.2% of the cases, the kidney damage was noted at the disease onset, and the severe, recurrent course of the lupus nephritis was registered. The nephrotic syndrome has developed in 47.2% of cases. All patients received the comprehensive treatment: corticosteroids, cyclophosphamide, azathioprine, selective immunosuppressants. A study was conducted for 23 children to determine the efficiency of the enalapril treatment prescribed for the purpose of the nephroprotection. It was revealed that this drug improves the long-term results. There was registered the twofold decrease in the disease recurrence rate, fivefold decrease in the level of daily proteinuria. Five-year survival rate was observed in 100% of the patients, 10-year – in 91.6%, end-stage renal failure was diagnosed in 8.4% of the children. 5 patients died in adult life (mortality rate is 13.9%).
Conclusion. The children with the lupus nephritis require the continuation maintenance therapy. The use of the selective immunosuppressants and nephroprotectors has contributed to the renal survival.

The results of the clinical approbation of Patient-specific therapy of bronchial asthma in children using the course method of application of the monoclonal antibodies (anti-IgE-therapy) by the Ministry of Health are summarized in order to assess the effect of this type of treatment on the disease exacerbation rate, including those associated with the seasonal acute respiratory infections. The conclusion was made regarding the high clinical efficiency in relation to all parameters studied and safety of this type of the treatment. It was determined that the monitoring of the level of specific IgE receptors on basophils using the cytoflowmetry method, which is concomitant to anti-IgE therapy, makes it possible to predict the efficiency and individual duration of anti-IgE therapy for uncontrolled atopic bronchial asthma in children.

The Kawasaki disease is the acute vasculitis specific to the childhood that affects the medium-sized arteries and causes the coronary aneurysms in about 25% of the patients untreated. This disease is one of the causes of the heart diseases acquired in the children in the economically developed countries. The cause of the Kawasaki disease remains unknown. The Article is based on the current guidelines and clinical case, with special focus on the necessity of the early diagnosis and proper treatment, since only early diagnosis and timely treatment of the patients with this disease prevent the damage of the coronary arteries.

The Article considers the argumentative issues of the diagnosis of the virus-induced bronchial asthma and recurrent obstructive bronchitis in the children of infant and preschool age, the commonality of their pathogenesis, the feasibility and efficiency of their therapy using the monteleukast – the antileukotriene receptor inhibitor. Along with the anti-inflammatory properties of the monteleukast, the potential antiviral activity discovered in it was considered, in particular, against the SARS-CoV-2 virus, which causes COVID-19.

The clinical guidelines for the diagnosis and treatment of the3 functional disorders of the digestive system in children were prepared by a Group of Experts, domestic leading specialists in the field of the pediatric gastroenterology, who generalized the foreign guidelines and domestic experience, suggesting the tactics for the pediatrician actions in the everyday practice. Part 3 of the Guidelines discusses the billiard tract dysfunctions and functional constipations. There are no biliary tract dysfunctions in the Pediatric Sections of Rome Consensus IV; however, the Russian pediatric school of thought has always considered them as important in terms of one of the causes for abdominal pain in children. This attitude was supported by the experts, and it is maintained in these Guidelines. The functional constipations are common in the children of different ages, and they present not only a medical problem, but also a serious social one for both children and their parents. That is why the considerable attention has been paid to this pathology considering the psychosocial aspects of the correction.

Purpose of the Study: Assessment of the influence of the type of the adapted infant milk formula in infants on the formation of the body resistance.
Children Characteristics and Study Methods. 105 virtually healthy children were examined, as follows: 35 children were breastfed (control group), 70 children were formula fed including 35 children that received NENNY with prebiotics formula based on the goat milk (main group), 35 children – formulas based on the cow milk with probiotics and prebiotics (comparison group). The incidence rate of the acute respiratory diseases (ARD) as well as the number of the pneumonia histories in the infants were assessed, and the body resistance index was calculated. The laboratory assessment of the child body immunoresistance was carried out using the method of imprint smears from the nasal mucous membranes and the method of nasal washes.
Results. It was determined that there were 2 times more children of the main group with no history of the acute respiratory diseases when infant than in the comparison group. In general, the good resistance (were sick 0-3 times a year) in the main group was registered in 82.9% of the children, while it was only 60% in the comparison group. The average number of the ARD cases per year was 2.3 ± 0.02 in the main group, which is 1.5 times less than in the comparison group – 3.6 ± 0.04 (p <0.05), and in 1, 3 times more than that in the control group – 1.8 + 0.03 (p<0.05). In average, the resistance index was 0.28 ± 0.02 in the main group, while it was 0.36 ± 0.03 in the comparison group, and 0.25 ± 0.02 in the control group. When studying the incidence rate of the community-acquired pneumonia in the infants, it was revealed that 2.8% of them were ill in the control group, 5.7% of them in the main group, and 8.5% in the comparison group. When feeding the child with formulas based on the goat’s milk, the level of mucosal immunity of the nasal mucosa and enzyme systems of the intraleukocyte microbicidal system is assured, which is virtually indistinguishable from the level of immunity achieved with breastfeeding.
Conclusion. Adapted NENNY with prebiotics formulas can be recommended for children who are formula fed when infant in order to increase the body’s resistance and to reduce the incidence rate of the acute respiratory diseases and community-acquired pneumonia.

The probiotic fermented milk products hold a specific place in the children diet. As a rule, the pediatricians, when advising the parents, are guided by the characteristics of both strains used as the ferment and the probiotic strains included into the food product. It is important that the microorganisms are safe, shelf stable and able to survive in the gastrointestinal tract. The use of the probiotic fermented milk products has a positive effect on the child health, as follows: anti-infectious and immunomodulatory effects, it helps to normalize the motion of the gastrointestinal tract. These provisions shall be supported with the controlled studies.

Study Goals. Assessment of the efficacy and safety of the Pentanedioic Acid Imidazolyl Ethanamide (IPA) in the treatment of influenza and other acute respiratory viral infections (ARVI) in children aged 3–6 years.
Children Characteristics and Study Methods. The randomized double-blind placebo-controlled multicenter clinical study involving 190 patients aged 3–6 years was carried out as follows: 95 patients received IPA at 30 mg/day dose once for 5 days and 95 patients – placebo using the same pattern. The therapy efficacy was assessed by the body temperature, dynamics of the individual symptoms of the disease as per the Severity Scale for the patients with influenza and other acute respiratory viral infections (Scale) and the incidence rate of complications of the acute respiratory viral infections. The primary endpoint is the period of the score reduction on the Scale to 2 points, providing that there is not more than 1 score on the individual subscales with the body temperature normalization from the start of treatment. The safety analysis was carried out using the assessment of the nature and incidence rate of the adverse events.
Results. The IPA use at 30 mg/day dose significantly promotes the achievement of goals for the primary endpoint – the average value in the IPA group is 91.79 h (95% confidence interval – CI from 87.45 to 96.13), in the placebo group – 100.12 h (95% CI from 96.73 to 103.51). In the IPA group, the body temperature returned to normal by 18.56 h faster in average compared with the placebo. The regression of the catarrhal and intoxication symptoms was significantly promoted with the IPA use as follows: by the 3rd day of the therapy, the average score on the Scale was 5.22 points for IPA, and it was statistically significantly lower than that in the placebo group – 6.21 points. The comparative analysis of the incidence rate of adverse events did not reveal the statistically significant differences between IPA and placebo. None of the adverse events recorded was clinically significant, and none caused the cancellation or change in the dosage of the study drug.
Conclusions. IPA broad-spectrum antiviral drug at 30 mg/day dose has demonstrated the high efficacy in the treatment of the acute respiratory viral infections of various etiologies in children aged 3–6 years. The IPA use compared with the placebo causes the significant reduction of the fever period, accelerates the relief of the intoxication and catarrhal symptoms, and decreases the recovery time. The IPA is characterized by high tolerability and high safety, which allows to recommend the drug for the treatment of influenza and ARVI (acute respiratory viral infections) in children from 3 years of age.