Shwachman-Diamond syndrome is a rare disease inherited by autosomal recessive type, characterized by exocrine pancreatic insufficiency, bone abnormalities, growth retardation, bone marrow insufficiency with an increased risk of developing myelodysplastic syndrome and acute myeloblastic leukemia. The clinical manifestation of the disease is observed at the neonatal age. Pathology requires lifelong enzyme replacement therapy. The article contains a retrospective analysis of four case histories of children with Shwachman-Diamond syndrome. These clinical cases illustrate the importance of timely diagnosis and treatment of the disease. Early diagnosis and prescription of optimal enzyme replacement therapy contributes to adequate physical development of the child, improving his quality of life and prognosis.

Liver fibrosis is a natural outcome of almost any liver disease with a steady increase in incidence throughout the world. Considering the pathogenesis of liver fibrosis, the doctor-researcher is faced with the fact that the balance of regeneration processes in relation to the process of chronic inflammation is disturbed. The extracellular matrix accumulates in the liver tissue. Although this is a genetically determined process, but modifying factors play an important role in the progression of the disease. Liver fibrosis in its dynamic development leads to liver cirrhosis, hepatocellular carcinoma. Current data indicate the possibility of reversibility of liver fibrosis at any stage. Understanding the molecular mechanisms of the development of the pathological process is a key area of work for scientists involved in the development of antifibrotic therapy. The article discusses modern views on the prevention of the disease and the prospects for influencing the processes of liver fibrosis with an emphasis on childhood.

Aims. Study of endoscopic features of the manifestation and dynamics of chronic gastroduodenitis in children, taking into account the types of constitution (somatotypes). Materials and methods. 250 patients diagnosed with Chronic gastroduodenitis aged 4 to 17 years have been studied, having morphological changes in the mucous membrane of the stomach and duodenum that meet the criteria for gastroduodenitis, as well as contamination with the H.pylori bacterium. The age, gender composition, types of the constitution according to the classification of M. V. Chernorutsky (based on the Pinier index). Endoscopic features of chronic gastroduodenitis were noted in a somatotype upon admission to the hospital and in dynamics against the background of the therapy. An analysis was carried out and an assessment was made of the impact of the constitutional specifics of the patient on the course of the disease and the results of treatment. Results and conclusion. It was revealed that the presence of an asthenic type of constitution predisposes to the frequent development of chronic gastroduodenitis in children, but a milder course with the development of superficial gastroduodenitis, in contrast to normostenic and hyperstenic types, prone to the development of hypertrophic and erosive gastroduodenitis. Despite this, the course of hypertrophic and erosive gastroduodenitis in asthenics is protracted in nature, in contrast to normostenics and hyperstenics.

Congenital chloride diarrhea is a genetically determined disease caused by a mutation in the SLC26A3 gene, located on chromosome 7 at the 7q31 locus. It encodes a transmembrane transport protein that is normally present in the colon and small intestine, where it is responsible for the absorption of chloride. Congenital chloride diarrhea is an autosomal recessive congenital disease. Currently, different types of mutations in SLC26A3 have been described. If the gene is defective, protein synthesis is disrupted, as a result the absorption function of the intestinal epithelium decreases, which is accompanied by the development of diarrhea syndrome. This article describes a clinical case of congenital chloride diarrhea. Clinical case demonstrates a late diagnostic, despite the presence of characteristic signs of the disease even at the stage of intrauterine development of the fetus. Early diagnosis and timely start of treatment determine a favorable prognosis of the disease and guarantee the preservation of the patient’s quality of life.

Angioedema (AO) is a localized transient acute, recurrent edema of the skin or mucous membranes. Vasoactive substances play a key role in the development of AO: histamine, tryptase, prostaglandin, bradykinin, which lead to a reversible increase in endothelial permeability. Usually, the manifestations persist from 2 hours to several days and in most cases disappear without a trace, without additional therapy. ICD-10 CODE: T 78.3 - angioedema, D 84.1 - defect in the complement system. The purpose of the study. The purpose of the study is to study the features of episodic angioedema as a manifestation of parasitic invasion Materials and methods. The clinical case of a 10-year-old boy who was hospitalized in the pediatric department as planned with complaints of recurrent swelling of the eyelids, perianal area, itchy skin, hemorrhagic rashes, abdominal pain was analyzed. These symptoms are noted periodically for 2.5 years. The child’s anamnestic data, allergoanamnesis, gender characteristics, and the structure of the main diagnoses were analyzed. The results of laboratory and instrumental research methods were evaluated (including the level of C1 inhibitor for differential diagnosis with hereditary angioedema). Results. The results of the study. For 2.5 years, the child was periodically hospitalized in various hospitals with symptoms of periorbital edema and abdominal pain. These symptoms persisted from 2 weeks to 2 months. And they were registered with a frequency of 2 months. Blood tests showed an increase in IgE by 10 times, IgG to helminths by 6 times. At normal values of the C1 inhibitor. During the EGDS, a large number of roundworms were discovered. The normal level of the C1 inhibitor, as well as the absence of similar signs of the disease in the child’s closest relatives (autosomal dominant type of inheritance) made it possible to exclude hereditary angioedema with a high degree of probability. Conclusion. The data obtained during the analysis allowed us to conclude that parasitic invasion may be the cause of angioedema in children. Blood eosinophilia, as one of the important indicators of parasitic invasion, may be absent during the long course of infection. The presence of elevated total immunoglobulin E and positive minimum levels of antibodies to helminths in the blood should alert doctors in terms of further search for parasitic invasion.

The mechanisms of formation of the intestinal microbiota, its influence on the health of the child, participation in physiological and pathological processes are considered. Microorganisms enter the body of the fetus in utero, then the newborn child receives the microflora from the mother during childbirth. The results of molecular genetic studies indicate that the process of microbial colonization of a child is determined by the characteristics of nutrition. Of great importance in the formation of normal microflora belongs to breastfeeding. The gut microbiota interacts with various parts of the body, influencing the pathogenesis of many local and systemic diseases. The most important mechanisms for the formation of diseases in children depending on anomalies in the structure of the microbiome are considered. Understanding the processes of formation of intestinal microflora allows us to develop effective methods for the prevention and correction of microecological and motor disorders in the age aspect.

Microchimerism (MC) is understood as the presence in the body of cells genetically different from the population of the individual, capable of existence and persistence, that is, reproduction and differentiation. This process is associated with the exchange of cellular material between mother and fetus. The consequences of the intrauterine acquisition of maternal MC (MMC) by the fetus are essentially different from the acquisition by the mother of fetal CM (FMC) in the mature state of the organism. Microchimerism has been implicated in the development of autoimmune diseases, but it also helps the body limit a particular disease. Since all these processes take place during the early development of the fetal immune system, the initial response of the immune system is the development of specific tolerance to maternal antigens. MMС can modify immune functions and reactivity through the nongenetic acquisition of cellular and subcellular material. Both FMС and MMС are quite common phenomena, which affects the body of the child and mother, the differentiation and functionality of the host cells. All this allows us to consider foreign cells as a potential target for drugs in the fight against autoimmune diseases or, conversely, stimulation of regeneration processes of damaged tissues. Issues of evolution and prospects for the prevention of various pathological conditions are considered from the standpoint of taking into account maternal and fetal chimerism syndrome.

Cholelithiasis has been and remains a frequent socially significant public health problem worldwide. The pathomorphosis of the disease has also undergone significant changes, which has significantly rejuvenated, occurring not only at a young age, but also in childhood. More than 175,000 cholecystectomies are performed annually for cholelithiasis. Cholelithiasis affects 10-20% of the adult population in our country. At the same time, cholecystectomy came in second place after appendectomy. There are no official statistics on the prevalence of GCD in the general population of children in Russia. In the Krasnodar Territory, the incidence of cholelithiasis in childhood, according to the data of circulation, is 1.8-3.3%. Over the past decade, a number of studies have been conducted confirming the role of the microbiota in various parts of the gastrointestinal tract as a new link in the etiopathogenesis of GI. Intestinal bacteria (Clostridium, Bifidobacterium, Peptostreptococcus, Bacteroides, Eubacterium, Escherichia coli), involved in the oxidation and epimerization of bile acids, can disrupt enterohepatic circulation and lead to the formation of gallstones. At the same time, cholecystectomy leads to further transformation of the microbiota composition in various parts of the gastrointestinal tract, increasing the risk of developing stomach cancer and colorectal cancer. Further research is needed to determine the possibility of using the assessment of the composition of the gastrointestinal microbiota as a marker for the early diagnosis of various gastroenterological diseases of cholelithiasis in particular. The purpose of the study: To determine the role of the intestinal microbiota in the development of metabolic disorders in children with cholelithiasis in order to predict the complicated course of the disease. Material and methods. The work was carried out on the basis of the children’s city polyclinic No. 122 Moscow`s Health Department (chief physician - A.I. Bragin), 194 children with housing and communal services were under supervision. The control group consisted of 78 practically healthy children of the I Health group. The study groups were comparable in gender and age. Criteria for inclusion in the study: children with an established diagnosis of cholelithiasis, asymptomatic course at the age of 3 to 15 years. Exclusion criteria from the study: refusal of the child’s legal representative from the study, the presence of diagnosed acute diseases in the child during the last month, chronic somatic diseases, taking antibiotics and probiotics in the last 6 months, catamnestic observation for less than 12 months. General clinical studies were conducted: questionnaires, health assessment, anthropometry, biochemical examination of blood serum, including lipidogram, ultrasound examination of the abdominal cavity and gallbladder. To assess the intestinal microbiome, the following methods were used: standard bacteriological analysis of feces (method of sowing feces on liquid agarized nutrient media); complex coprological examination with the determination of pancreatic elastase (ELISA method) and fecal carbohydrates (Benedict method); biochemical examination of feces with the determination of short-chain fatty acids (SCFCS) (gas-liquid chromatography method); The Shannon index was adopted as a measure of intestinal dysbiosis. Statistical analysis was performed using the software package Statistica8.0 and MS OfficeExcel 2010/ The results of the study and the conclusion. The biotransformation of the bile acid pool mediated by the gut microbiota regulates the metabolism of bile, glucose and lipids. In children with GI, the number of bacteria representing the indigenous microbiota is generally lower, the intensity of colonization of the intestinal mucosa by them is significantly less, the species diversity of opportunistic and pathogenic bacteria is significantly higher compared with those in practically healthy children. There is an unstable and poor-quality system of interrelation with the macroorganism, disparate metabolic pathways. MK is not able to qualitatively maintain homeostasis within its own consortium. All this creates conditions for disruption of bile acid metabolism and the formation of lithogenic bile. The presence of intestinal dysbiosis in children with GI can cause not only the formation of gallstones, but also negatively affect the further growth and development of children, including the formation of metabolic complications and inflammatory processes.

The article is devoted to the results of the training of pediatricians in pediatric gastroenterology based on the experience of the Department of Pediatrics with Infectious Diseases in Children (Head of the Department - prof. L. A. Kharitonova) N. I. Pirogov’s Russian National Research University of the Ministry of Health of Russia. The stages of development of the department are presented in detail. Since diseases of the digestive system have been and remain the main scientific direction of the work of the department staff, the issues of teaching gastroenterology and training both specialist doctors and pediatricians in this area influenced the goal-setting of the pedagogical process. Convincing evidence of the effectiveness of the rapid introduction of scientific and research achievements in practical health care. Fragments of the article highlight how, within the framework of training, joint medical work with organizations of health authorities in various regions of Russia, with which the department closely cooperates, they help spread knowledge. The prospects for the work of the department in the field of age-related non-infectious, infectious gastroenterology, biliary pathology and nutrition, further improvement of scientific and pedagogical activities, the quality of training of specialists in the field of pediatric gastroenterology are outlined. The article is dedicated to the 35th anniversary of the department.

Celiac disease or gluten enteropathy is an immune-mediated disease that occurs in response to the consumption of gluten by genetically predisposed individuals and is characterized by the development of intestinal and extra-intestinal symptoms. According to the World Organization of Gastroenterologists, the frequency of gluten enteropathy in various populations ranges from 1:100 to 1:300. This article describes a clinical case of celiac disease, the only manifestation of which was iron deficiency anemia. Thus, we would like to draw attention to extraintestinal variants of the course of celiac disease in order to timely detect the disease, prescribe a lifelong gluten-free diet and prevent the development of severe complications.

There is a rare clinical observation of a 12-year-old girl whose stomach ulcer in the acute stage was combined with chronic reflux esophagitis, hernia of the esophageal orifice of the diaphragm, exacerbation of chronic pyelonephritis. This clinical situation required endoscopic, other instrumental and laboratory examination of a normosthenic child with complex, including anti-helicobacter therapy.

Obesity is a heterogeneous group of hereditary and acquired diseases associated with excessive accumulation of adipose tissue in the body. One example of syndromic obesity in children is Bardet-Biedl syndrome. This is a rare autosomal recessive disease from the group of ciliopathies, characterized by retinal dystrophy, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction. The article presents two clinical cases of Bardet-Biedl syndrome. Diagnostic criteria for the disease are given, and the need for molecular genetic research methods in the early stages of the diagnostic search is shown. Promising directions in the treatment of the syndrome are considered.

Liver fibrosis is a natural outcome of almost any liver disease with a steady increase in incidence throughout the world. Considering the pathogenesis of liver fibrosis, the doctor- researcher is faced with the fact that the balance of regeneration processes in relation to the process of chronic inflammation is disturbed. The extracellular matrix accumulates in the liver tissue. Although this is a genetically determined process, but modifying factors play an important role in the progression of the disease. Liver fibrosis in its dynamic development leads to liver cirrhosis, hepatocellular carcinoma. Current data indicate the possibility of reversibility of liver fibrosis at any stage. Understanding the molecular mechanisms of the development of the pathological process is a key area of work for scientists involved in the development of antifibrotic therapy. The article discusses modern views on the prevention of the disease and the prospects for influencing the processes of liver fibrosis with an emphasis on childhood.

Relevance . The article presents the results of research of intestinal microbiocenosis in young children born from mothers with gestational diabetes. Indicators of functional activity of intestinal microbiome in the studied cohort of children are presented. The article forces the attention of specialists to the possibility of influence of the biochemically altered microbiome of the intestine on metabolism and health of the child in general. Research objective . To improve the early diagnosis of intestinal microecology disorders in children born to mothers with gestational diabetes by studying the species composition and state of functional activity of intestinal microbiome. Material and methods . Intestinal microbiome study (MK) conducted in 105 children aged 1–3, of whom 33 children from mothers with gestational diabetes mellitus insulin therapy (GDМ IT), 42 children from mothers with gestational diabetes mellitus on diet therapy (GDМ DT), 30 children from mothers without GDМ (control group — СG). To this end, methods were used: a standard stool study for dysbacteriosis, a functional state of intestinal microflora to determine the concentration of short-chain fatty acids (SHFA) by gas-liquid chromatography of acidified stool supernatant. Estimation of quantitative distribution of the main types of intestinal microorganisms in children of the studied groups using the method of sequencing 16s rRnk of bacteria. The measure of intestinal dysbiosis was the biodiversity of the microbial community, which in biology is quantified by the Shannon index, corresponds to the number of microbial species in the intestine microbial community and is calculated by the formula: = - ∑ 2= 1, where =∑ = 1The normalized Shannon index has a range of values from 0 to 1, which is suitable for interpreting the state of microbiome. The results were statistically processed using Statistica 8.0. and MS Office Excel 2010. Results and discussion . The NGS method of stool sequencing identified the distribution of types of microorganisms in the intestine: in the GDМ IT, GDМ DT and CG Actinobacteria and Firmicutes are the dominant types of bacteria, which is a regular distribution for the microbial community at this age. But in order for bacteria not to realize their pathogenic properties, it is important their intraspecific representation and relationship. It has been found that in children born to mothers with GDМ in general, there is a tendency to decrease the representation of Actinobacteria relative to Firmicutes, in contrast to CG. This may indicate an imbalance within the microbiome of the intestine in children from mothers with GDМ and lead to dysbiosis. So Actinobacteria, which are representatives of MK in the norm, in children from mothers with GDМ IT are represented in a reliably lower range of values than in children from CG (p=0,033). And in children from mothers with DSS DT Firmicutes are represented in greater quantities than in CG (p=0,039).The predominance of these bacteria in old age plays a crucial role in the development of metabolic disorders. According to this study, it has been found that children of GDМ mothers generally have a reasonably higher degree of MK biodiversity than children with GDS. Thus, in the group of GDМ IT 9 dominant types of micro- organisms were identified, in the group of GDМ DT — 7 species, in CG — 3 species. At the same time, children from mothers with GDМ IT have an increased representation of saprophyte flora (Clostridium hiranonis (р=0,023), Actinomyces spp. (р=0,023) and some representatives of resident fl ora (Coprococcus catus (р=0,045), Veillonellaceae (р=0,04) и Blautia producta (р=0,049)) compared to CG, which may indicate a competitive environment for pathogens, but also do not exclude the possibility of adverse changes in the body’s immune system. Children from mothers with GDМ DT found an increase in the level of Cl. hiranonis, compared to CG (p=0,041), as well as members of the genus Eggerthella (p=0,029) involved in mixed infections, which can lead to chronic inflammation of the intestine mucous and disorders of the body’s metabolic system. Revealed changes in MK in young children from mothers with GDМ are accompanied by peculiarities of metabolic activity. In children from mothers with GDМ IT and GDМ DT metabolic activity did not differ reliably. But the total level of SHFA characteristic for a well-functioning microbiota is more common in children in GDМ IT — 29 (88.0%) than in CG — 18 (60.0%), p=0.036. Also, children with GDМ mothers generally have metabolic pathways similar to those found in MK in children of CG, but have strong correlation and pathogenic types of bacteria. Probably, despite dysbiosis, there is the formation of compensatory metabolic pathways between the MK and the host organism. But these processes can not be called stable, because the MK children of these groups can manage their species and size without the participation of macroorganism. Conclusion . The composition of the MC for young children born to GDМ mothers in general diff ers reliably from the MC for CG children and is dysbiotic.In children born to GDМ mothers, MK is represented mainly by opportunistic and pathogenic bacteria. In the group of GDМ IT indigenic microflora is stronger.Metabolic activity of MK in this cohort of children is high, but is achieved due to the activity of both individual and saprophytic fl ora, which in the future may lead to the breakdown of compensatory mechanisms and the start of metabolic disorders in the child.

April 17 marks World Hemophilia Day. The date is dedicated to the birthday of Frank Schnabel, the founder of the World Federation of Hemophilia. And on this day and on other days, the medical community is called upon to draw attention to the problems of people suffering from blood clotting disorders — one of the central ones in hematology. Hemophilia, although one of the most common genetically determined blood coagulation disorders, is considered a RARE (orphan) disease. The disease manifests itself in early childhood, clinically has two of the most common variants of the disease: hemophilia A and hemophilia B. Diagnosis requires mandatory laboratory confirmation of the genetic absence or decrease in the concentration of FVIII for hemophilia A and FIX for hemophilia B. In recent years, the introduction of domestic recombinant coagulation factors into practice has made it possible to significantly optimize replacement therapy in children with hemophilia, and in the context of increasing Western sanctions, to ensure children of Russia with the necessary means of urgent care and prevention, which are not inferior to the best foreign analogues. New therapy principles that are actually changing the principles of treatment include non-factor drugs and gene therapy options for both hemophilia A and hemophilia B.

We present a rare clinical observation of an 11-year-old boy who, as a result of a fall from a height, received a severe combined injury of the chest, abdomen, retroperitoneal space, which was accompanied by a contusion of the lungs with hydrothorax, contusion of the right kidney, pancreas and duodenal rupture with the development of traumatic shock of the III degree, bile peritonitis. It required emergency surgery, intensive care and was combined with the patient’s chronic reflux esophagitis with esophageal stenosis, erosive gastritis, duodenitis. The development of stenosis of the esophagus may have had a post-traumatic character.

The authors consider nutritional theoretical concepts in the light of the organizational possibilities of their use in modern pediatric practice. Analysis of nutrition problems in an evolutionary aspect implies taking into account the latest achievements in molecular biology, microbiology and biotechnology. As the most important part of medicine and health care, nutrition determines the relationship of a person with the internal and external world and is the basis for the formation of the health of a growing organism. The article discusses the general problems of qualitative and quantitative changes in nutritional parameters during the formation of diseases, their prevention and treatment.

В статье приведены результаты исследований микробиоценоза кишечника у детей раннего возраста, рожденных от матерей с гестационным сахарным диабетом. Показано наличие нарушений баланса микробиома кишечника и его функциональной активности у исследуемой когорты детей. Проведены и описаны современные методы исследования микробиома кишечника. Статья заставляет обратить внимание специалистов на возможность влияния дисбиотического сообщества бактерий на защитные функции биопленки и воздействия на здоровье организма ребенка в целом. The article presents the results of studies of gut microbiocenosis, as well as its metabolic features in young children born to mothers with gestational diabetes mellitus. The article examined the characteristics of gut microbiocenosis, as well as its metabolic features in early children born to mothers with gestational diabetes mellitus. The presence of intestinal microbiota balance disorders and its functional activity in the studied cohort of children is shown. Modern methods of gut microbiota investigation have been carried out and described. The gut microbiocenosis metabolite indices in the study groups of children were analyzed. It was concluded that the obtained results in the study groups of children have reliable deviations. Which makes experts pay attention to the possibility of the infl uence of the dysbiotic community of bacteria on the protective functions of biofi lm and the impact on the health of the child as a whole.

The goal of research. To analyze some features of peptic ulcer of the stomach and duodenum in children, depending on the type of constitution. Material and methods of research. We examined 58 children aged 12-18 years with a diagnosis of peptic ulcer of the stomach and/or duodenum, who underwent endoscopic examination, Hp was detected in the biopsy and aero test. Results. Peptic ulcer disease was more often detected in asthenic children (67.2%), less often in hypersthenic (17.3%) and normosthenics (15.5%). Various research methods in asthenic children (97.4%) revealed the presence of Hp more often than in hyper- or normosthenic children. Conclusion. Children with an asthenic type of constitution are more prone to Hp-associated forms of gastric and duodenal ulcers than hypersthenics or normosthenics.

Aims. The study of clinical and diagnostic features of the course of chronic gastroduodenitis in children, taking into account the types of constitution (somatotypes), the impact of these features on the course of the disease and the treatment.Materials and methods. We studied 250 patients with a diagnosis of “Chronic gastroduodenitis” aged 4 to 17 years, with morphological changes in the mucous membrane of the stomach and duodenum, corresponding to the criteria for gastroduodenitis, as well as contamination with the H. pylori bacterium. An assessment was made of the age, gender composition, types of constitution according to the classifi cation of M. V. Chernorutsky (based on the Pignet index). Clinical- anamnestic and laboratory- instrumental features of the course of chronic gastroduodenitis in one or another somatotype were noted. The analysis and assessment of the infl uence of the constitutional specifi city of the patient on the course of the disease and the results of treatment was carried out.Results and conclusion. It was revealed that the presence of an asthenic type of constitution predisposes to the frequent development of chronic gastroduodenitis in children, but a milder course with the development of superfi cial gastroduodenitis, in contrast to normosthenic and hypersthenic types, prone to the development of hypertrophic and erosive gastroduodenitis. It was noted that in asthenics and normosthenics, the success of eradication anti- Helicobacter therapy is signifi cantly higher than in hypersthenics.