Liver cirrhosis is a major problem in the pediatric population due to the complex interaction of etiologic factors, clinical manifestations, and limited therapeutic options. This multifaceted condition, characterized by irreversible replacement of normal liver tissue with fibrous scar tissue, significantly impacts childhood demographics, requiring a sensitive approach to diagnosis, prevention, and treatment. The main causes of cirrhosis in children are chronic cholestasis, metabolic disorders present from birth, and chronic, primarily infectious, hepatitis. The authors consider diagnostic and differential diagnostic aspects of terminal stage liver disease in children. Therapeutic management of patients with liver cirrhosis and acute renal failure is based on supporting various organ functions. Hemodialysis/plasmapheresis may serve as a bridge therapy prior to liver transplantation in some patients.

Introduction. The history of celiac disease research spans more than one millennium, but it is only in the middle of the 20th century that the causal role of gluten was proved. Moreover, the 75 years since then were marked by impressive achievements that enabled an understanding of the nuances of pathogenesis, the development of highly informative diagnostic methods, and the identification of trends in drug treatments for gluten-associated diseases. Given that gluten intolerance and the resulting group of pathological conditions are widespread in the human population as a whole, studies of the quality of life, socio-economic and psychological aspects of the patients’ lives and their immediate environment are of particular value. Purpose of the study. To examine whether children with celiac disease and their immediate environment are satisfied with the availability and quality of social support measures. Materials and methods. This study was based on the results of an online survey conducted among 179 respondents (children, parents and guardians) with an established diagnosis of celiac disease using an original questionnaire to study the satisfaction of celiac patients with the availability and quality of social support measures. Results and discussion. The results of the study suggest that celiac disease in children has a multidimensional impact on the family’s daily life, going beyond clinical issues and affecting a wide range of social, organizational and psychological aspects, representing not only a medical problem, but also a persistent source of social difficulties, which necessitates comprehensive interdisciplinary support. The identified difficulties in confirming the diagnosis and organizing medical support allow us to hypothesize about insufficient integration of patients with celiac disease into primary health care and the lack of medical awareness. That is, children with celiac disease and their families remain in conditions of latent social and medical instability, without receiving a full-fledged, multidisciplinary trajectory of support. At the same time, fragmentary knowledge about social support measures indicates a deficit of institutional information and opacity of mechanisms for inclusion in the care system. This allows us to conclude that celiac disease does not yet hold an important place in the social policy system and remains insufficiently taken into account when forming specialized support measures, and that there is no systemic approach to supporting this group. In addition, the survey results record a persistent impact of the disease on daily activity, including limited mobility, difficulties with organizing meals outside the home, and challenges in academic inclusion. At the same time, against the background of the relatively preserved interpersonal communications and the significant role of support from family members, we can assume the presence of compensatory mechanisms grounded in the resource potential of the immediate social environment. That is, the sustainability of families with a child suffering from celiac disease relies rather on informal resources and internal strategies than on systemic external support. Conclusion. Celiac disease in children is not only a medical problem, but also an indicator of institutional vulnerability, structural gaps in routing, support and information. Effective integration of families into the support system requires a comprehensive interdepartmental model, including: regulatory consolidation of support measures, regular updating and dissemination of information in an accessible form, expansion of gastroenterological services and development of infrastructure for a safe everyday life.

In order to determine the concentration of Claudin-2 and I-FABP to clarify the mechanisms of intestinal permeability in newborns, 115 patients (gestational age - 33-41 weeks (Me 38.0 [36.0-39.0]) aged up to 10 days were examined. The first group (n=80) consisted of full-term infants (Me 39.0 [38.0; 40.0] weeks); the second included 35 premature infants (Me 35.0 [34.5; 36.0] weeks). The ELISA method was used to determine the concentrations of Claudin-2 and I-FABP, as well as to assess the basic indicators of nutritional status. The statistical analysis was performed using the StatTech v. 4.3.2 program (Russia). The Kolmogorov-Smirnov (n≥50) and Shapiro-Wilk (n≤50) criteria, the Mann-Whitney U-test and the Kraskel-Wallis criterion, and the Spearman rank correlation coefficient were used. The differences were considered statistically significant at p<0.05. As a result of the study, it was found that the concentration of Claudin-2 in the total cohort of examined children was Iu 3,434 ng/ml [1,198-7,866], the level of I-FABP in the sample was Iu 1,134 ng/ml [0.854-1,846]. The markers had a direct relationship (rs=0.44, p<0.001). It was found that the level of Claudin-2 in premature infants is higher than in full-term infants (Me 8,124 ng/ml [6,448-13,676] VS Me 1,508 ng/ml [1,004-4.33]) (p<0.001). There is an inverse correlation between the Claudin-2 value and gestational age (rs= -0.507, p<0.001), weight (rs= -0.335, p<0.001) and body length (rs= -0.277, p=0.003), head circumference (rs= -0.316, p<0.001). The concentration of I-FABP in the blood serum in children of group 1 was Me 1.13 ng/ml [0.796-1.911], in premature infants - Me 1.134 ng/ml [1.05-1.614]. This indicator did not differ in patients in the study groups (p=0.440) and had no relation to gestational age (rs= -0.176, p=0.059), body weight (rs= -0.015, p=0.874), body length (rs=0.072, p=0.448) and head circumference (rs=0.023, p=0.805). There was no correlation between the nature of breastfeeding, antibacterial therapy, and Claudin-2 and I-FABP in blood serum (p>0.05).

Aims. Study the features of the course of HCG in children, depending on the type of constitution. Materials and methods. According to the inclusion/exclusion criteria, a group was formed and studied, including 250 patients diagnosed with Chronic gastroduodenitis aged from 4 to 17 years. The patients were selected randomly, after which they were divided into 3 groups corresponding to three constitutional types according to the classification of M.V. Chernorutsky: asthenics, normosthenics, hypersthenics. The correlation to each constitutional type was carried out on the basis of determining the value of the Pinier index. The age, sex composition, features of the clinical course of the disease, the prevalence of Helicobacter pylori, laboratory and instrumental data, and the effectiveness of eradication therapy were evaluated. Results and conclusion. Among the studied patients, asthenics are significantly more common (p<0.001) than normosthenics and hypersthenics. According to fibroesophagogastroduodenoscopy, superficial gastroduodenitis is significantly more common in asthenic children (p=0.018), hypertrophic gastroduodenitis in normosthenics (p=0.007), erosive gastroduodenitis in hypersthenics (p=0.012), a tendency to slower relief of the inflammatory process in asthenics is established. Asthenics and normosthenics significantly respond better to eradication antihelicobacter therapy according to the results of monitoring the effectiveness of treatment, unlike hypersthenics (p<0.001).

The aim of this study was to investigate the pharmacogenetic characteristics of proton pump inhibitors (PPIs) metabolism in children with autism spectrum disorder (ASD) based on whole-genome sequencing data and pharmacogenetic testing. A retrospective cross-sectional analysis was conducted involving 31 children with ASD aged 3 to 18 years. CYP2C19 genotyping was performed, assessing allele distribution and metabolic phenotypes using international databases such as CPIC and PharmGKB. The results revealed a high frequency of the CYP2C19*17 allele, associated with rapid PPI metabolism, in 32% of participants, notably higher (42%) in the subgroup with genetic syndromes. The CYP2C19*2 allele, linked to slow metabolism, was not detected. The CYP2C19*17 allele showed an even gender distribution. These findings indicate significant genetic heterogeneity in PPI metabolism among children with ASD, impacting the clinical efficacy of therapy. The data emphasize the necessity of pharmacogenetic testing to personalize PPI dosing and improve treatment outcomes for gastrointestinal disorders in this patient population. The absence of the CYP2C19*2 allele warrants further investigation. Integrating genetic information into clinical protocols supports the advancement of precision medicine and enhances the quality of life for children with ASD.

The article examines the types of eating behavior and coping strategies in adolescents with type 1 diabetes mellitus. 42 adolescents, aged 12-17 years, with a diagnosis of type 1 diabetes mellitus, who are being treated at the Russian Children’s Clinical Hospital, were examined. A psychodiagnostic study was used, including: A test of attitude to eating, an eating behavior assessment Scale, and a questionnaire “Juvenile coping scale”. A predisposition to eating disorders (RPP) was revealed in 12% of the subjects, among whom 20% demonstrate a desire for thinness and dissatisfaction with their body, and 28% - episodes of overeating and cleansing. The analysis of coping behavior showed the presence of three coping styles: productive, unproductive and social. A productive style involves problem-solving strategies, while an unproductive one involves anxiety and avoidance. The results confirm the relationship between the use of unproductive coping strategies and predisposition to RPP.

Introduction. Chronic upper gastrointestinal diseases in children with atopic dermatitis (AD) have endoscopic and morphological features. Objective: to examine the relationship between cytokine profiles (IL-4, IL-5, and IL-13), neuropeptide levels (neuropeptide Y (NPY)), and eosinophilic inflammation markers (eosinophil cationic protein (ECP) and eosinophil neurotoxin (EDN)) and the morphological appearance of the esophageal mucosa in children with AD combined with chronic gastritis. Materials and Methods. The study included 90 children with HP-induced chronic gastritis (HP+CG). Group 1 included 60 children with HP+CG combined with AD, and Group 2 included 30 children with HP+CG without AD. All children underwent esophagogastroduodenoscopy (EGD) and morphological examination of the gastric mucosa (MM) and three sections of the esophagus (upper, middle, and lower). Serum levels of IL-4, IL-5, IL-13, eosinophil cationic protein (ECP), eosinophil neurotoxin (EDN), neuropeptide Y (NPY), and substance P (SP) were measured. Statistical analysis was performed using IBM SPSS Statictics26. Results. Esophageal morphological assessment revealed that the group with AD and HP+CG significantly more frequently had an increased number of papillae and elongation of the lamina propria papillae throughout the esophageal MM. Patients with AD and HP+CG significantly more frequently had lymphocytic, mast cell, and eosinophilic infiltration of the esophageal MM, which was more pronounced in the lower sections. In Group 1, IL-5 and IL-13 levels were significantly lower than in the comparison group. No differences in the levels of eosinophil cationic protein, eosinophil neurotoxin, neuropeptide Y, or substance P were found between the study groups. Analysis of the relationship between cytokine levels, eosinophilic and neuropeptide inflammation markers, and the cellular composition of the esophageal mucosal infiltrate in the compared groups revealed a positive relationship between the deep mucosal eosinophil count and neuropeptide Y levels (r - 0.516, p < 0.01) and the superficial mucosal eosinophil count and IL-13 (r 0.411, p < 0.05) and neuropeptide Y (r 0.459, p < 0.05). Conclusion. In patients with AD and HP + CG, the morphological picture is characterized by the presence of low-intensity inflammation. Correlation relationships between the morphological picture and immunological parameters in patients with AD in combination with chronic gastritis suggest a significant role of allergic and neuropeptide inflammation in the genesis of the development of pathology of the upper gastrointestinal tract

The purpose of the study: to assess the state of intestinal biocenosis and the features of digestive processes according to the data of a coprological study in children with inflammatory bowel diseases who suffered from COVID-19. Research materials and methods: 82 cases of inflammatory bowel disease (IBD) in children were analyzed: 46 children with IBD who had COVID-19 and 36 children with IBD who had not had COVID-19. The microbiota was studied using the Colonoflor -16 kit, and the species diversity in individual samples (alpha and beta diversity) was calculated using Shannon formulas. Results: in the post-COVID period, we noted a high frequency of symptoms such as abdominal pain, diarrhea, and asthenovegetative symptoms. According to a coprological study, ileocecal (an abundance of indigestible fiber, iodophilic flora, and starch grains) and colitic (mucus, leukocytes, and erythrocytes) syndromes were found with the greatest frequency in the post-ovarian period. According to the results, children with IBD who had COVID-19 were twice as likely to have a decrease in total bacterial mass (MB) (39.1% vs. 19.4%, p<0.05), and normal MB were less common in the same group. It was found that the decrease in BM was due to a deficiency of Bifidobact.spp, non-pathogenic strains of Escherichia coli and Lactobacillus spp. Also, in children in the post-pregnancy period, an increased number of Klebsiella pneumoniae, Citrobacter spp., enteropathogenic Escherichia coli are more often detected. In 80% of cases, the alpha diversity is lower in the group of children who suffered from COVID-19. When comparing the groups, a significant difference was obtained, the average value of the Shannon index in children who did not have COVID-19 was 2.50+0.11, in the group of children who had an infection, the value was 1.96+0.23, p<0.05. Conclusion: Thus, after suffering the new COVID-19, children with IBD experience marked changes in intestinal digestion and biocenosis. The data obtained indicate the need for an additional rehabilitation program for children with IBD who have suffered COVID-19.

Objective: To analyze the influence of hormonal levels on the outcomes of bariatric surgeries. Materials and Methods: Clinical and laboratory studies, including hormonal status assessment, were conducted in patients with morbid obesity at the Department of Surgical Diseases, Faculty of Medicine, Bashkir State Medical University (Russian Ministry of Health). A cohort retrospective study was performed involving 39 patients who underwent restrictive bariatric interventions. A method for predicting the efficacy of surgical treatment of morbid obesity in restrictive-type surgeries was developed (patented in the Russian Federation). Conclusion: The proposed surgical strategy, based on outcome prediction considering baseline ghrelin levels, improved treatment efficacy. Good and satisfactory results were achieved in 85% of patients.

A standardized approach to the management of patients with suspected acute appendicitis (OA) has made it possible to reduce both the number of operated patients and the frequency of “negative” appendectomies, which is reflected in a downward trend in the incidence of OA. The use of the recommended NCR, clinical stratification scales for patients with suspected OA: AIR (Appendicitis Inflammatory Response score) and AAS (Adult Appendicitis Score) may have limitations due to the absence, at the time of the study, of test systems for determining the level of C-reactive protein (CRP) and/or electronic systems for counting polymorphonuclear leukocytes.

Inflammatory bowel diseases (IBD), which include ulcerative colitis (UC) and Crohn’s disease (CD), are systemic diseases characterized by extraintestinal manifestations and various complications. Thromboembolic complications (TEC), including venous and arterial thrombosis, are rare extraintestinal manifestations of IBD and are poorly understood. In adult patients with IBD, TEC occurs three times more often than in the general population, and during an attack of the disease, their relative risk increases 15-fold. According to publications, TEC is detected in up to 3% of children with IBD. Risk factors for thrombosis include the form of IBD (usually UC) and disease activity, personal and family history of thrombosis, as well as traditional risk factors for vascular thrombosis. Cerebral venous thrombosis (CVT) is the most serious type of TEC and is more common in children. There are many reports in the literature on the development of CVT against the background of IBD in children, while there are no uniform recommendations on the management of these patients. The aim of the study was to summarize and analyze modern data on the frequency of thromboembolic complications in children with IBD.

Inflammatory bowel disease (IBD) is a serious problem in pediatric gastroenterology and requires deeper and more detailed study. The pathogenesis of IBD is based on a genetic predisposition, the implementation of which occurs under the influence of aggressive environmental factors and the state of the intestinal microflora, which leads to a cascade of inflammatory reactions in the intestinal wall. However, to date, the mechanism of IBD development remains incompletely understood, and therefore conducting a literature review on the features of hemorheology and hemostasis in children with this pathology is relevant for the subsequent study of this issue in order to optimize therapy. Materials and methods of research. The search for literature sources was carried out using the library platforms: PubMed, eLIBRARY. All sources are no more than five years old.

Introduction. After eating, nutrients pass through the gastrointestinal tract (GIT), stimulating the release of a number of peptide hormones. They are part of a complex chain of physiological energy homeostasis. Dysregulation of their secretion is pathogenetically linked to the development and maintenance of obesity and excess body weight. Methods. The following full-text and bibliographic-referential databases were used in preparing the review: the National Library of Medicine of the USA (PubMed); the scientific electronic library eLIBRARY.RU and CyberLeninka (cyberleninka.ru). A search for primary source information was conducted over a depth of 10 years (2015-2025) using the following keywords (in English-language databases with corresponding translations): gastrointestinal hormones, obesity. Results. It has been established that the gut-brain axis plays a key role in the regulation of appetite and the body’s energy balance. This connection is maintained through local paracrine and/or endocrine mechanisms involving numerous gastrointestinal peptides produced by the endocrine cells of the stomach and intestines. The main ones include: ghrelin, leptin, glucagon-like peptide-1, cholecystokinin, peptide YY, pancreatic polypeptide, and oxyntomodulin. The GIT influences appetite and body weight through neural and humoral mechanisms as well as gut microbiota. Conclusion. Studying the mechanisms of dysfunction in the GIT will contribute to the future development of new strategies for the prevention and treatment of obesity aimed at restoring its normal function.

The gastrointestinal pathology traditionally occupies a significant place in the structure of referrals to specialists such as family doctors and pediatricians, approximately 1/3 of referrals are related to constipation, of which 90% are functional. The symptoms of constipation in children are diverse and can, on the one hand, be manifested only by bowel movements, and on the other hand, include a complex of intestinal and extra-intestinal manifestations. The severity and features of the clinical manifestations of functional constipation may vary depending on the age of the child at the initial manifestation of symptoms, the characteristics of his nervous system, the state of intestinal motility, the duration of the disease, the anatomical features of the colon, the nature of the therapy used, the form and degree of compensation for constipation. The article presents data on the prevalence of pathology in childhood, a description of clinical symptoms, diagnostic criteria, features of interaction with the family of a child suffering from constipation, options for medication and non-drug treatment.

The purpose of the study: to attract the attention of pediatricians, neurologists and other specialties to the problem of the state of neurological and somatic statuses in children who have suffered SARS-COV-2. Materials and methods. A review of literature was carried out, 5 years depth of search, regarding the formation of asthenic and psychosomatic syndromes in the post -shaped period, as well as the influence of the latter on cognitive functions and the quality of life of the child. Results. In the period from December 2019 to January 2020, the world community collided with the 2019 coronavirus infection pandemia (Covid-19) caused by SARS-COV-2 Betacoronaviros. According to annual reports, the incidence is stored on high numbers. As of June 2025, 776 007 137 cases of disease were registered in the world, 7 059 612 deaths. UNICEF data indicate that children and adolescents accounted for 0.4% of all registered deaths (> 17 400 cases), of which 53% among children and adolescents 10-19 years old, 47% among children 0-9 years old. In the Russian Federation, according to information from the state report, in 2021-9.054 million cases of the disease were recorded, in 2022 12.102 million, in 2023-2.072 million, in 2024-1.125 million cases. This virus has a high degree of virulence and is capable of aggressively to affect the epithelial cells not only of the upper respiratory tract, But also the stomach, intestines, brain, which determines the variety of its clinical manifestations. Currently, in the structure of clinical manifestations, a decrease in lung lesions so, in 2021, the share of pneumonia was 22%, in 2022-4.6%, in 2023-4.1%, in 2024-3,2%. In childhood, despite the easier course, the disease is accompanied by a systemic lesion - multi -inflammatory syndrome (MVS). The penetration of the SARS-COV-2 through the hematoencephalic barrier contributes to the formation of neurological symptoms: headache, acute encephalopathy, convulsions, weakness, anosmia, etc. Most of them remain for a long period. Meanwhile, a state, which is characterized by weakness, fatigue, emotional lability, hyperesthesia, sleep disturbances and other somatovegetative manifestations, is included in the concept of asthenic syndrome. Asthenia can be observed with somatic, infectious and other diseases. The analysis of literary data emphasizes the importance of studying neurological symptoms in children who have suffered COVID-19, depending on age and require additional attention. Further studies are needed for a better understanding of these manifestations, timely diagnosis and development of effective approaches to treatment. Conclusion. The course of SARS, caused by SARS -COV -2 is accompanied by the formation of asthenic syndrome, which is one of the clinical forms of manifestation of post -shoe syndrome. Asthenia is accompanied by the depletion of energy resources, registered in all age periods, is preserved for a long time and requires correction. The study of the microcirculatory channel performed by G. NATALELLO in patients with coronavirus pneumonia and our studies of auto -regulation of intracranial blood flow after the SARS -COV -2 auto -regulation, accompanied in the first case of micro -vascular disorders in the form of microcircuctions and microtrombosis and damage to the neurovascular unity and The development of the AC is a morphological substrate formation of post -shoe syndrome in children. Thus, for the diagnosis of post -shoe syndrome, it is necessary to perform a complex of clinical and instrumental studies, which will determine approaches to rehabilitation of children who have undergone SARS -COV -2.

Inflammatory bowel disease (IBD) is a serious problem in pediatric gastroenterology and requires deeper and more detailed study. The pathogenesis of IBD is based on a genetic predisposition, the implementation of which occurs under the influence of aggressive environmental factors and the state of the intestinal microflora, which leads to a cascade of inflammatory reactions in the intestinal wall. However, to date, the mechanism of IBD development remains incompletely understood, and therefore conducting a literature review on the features of hemorheology and hemostasis in children with this pathology is relevant for the subsequent study of this issue in order to optimize therapy. Materials and methods of research. The search for literature sources was carried out using the library platforms: PubMed, eLIBRARY. All sources are no more than five years old.

Modern regenerative surgery is a promising interdisciplinary field based on the use of stem cells and fully functional tissue equivalents created through cellular engineering techniques. These cells can differentiate into specialized cell types and modulate inflammatory processes, offering broad potential for the repair of damaged tissues. Of particular interest are multipotent mesenchymal stromal cells (MSCs), which exhibit high plasticity. They can differentiate into various cell lineages, including adipogenic, chondrogenic, osteogenic, and myogenic, as well as pancreatic cells, hepatocytes, and neural cells. Another key tool in regenerative medicine is platelet-rich plasma (PRP). Its advantages include ease of preparation and a minimal risk of immune reactions.

Objective: to generalize and systematize data on the nature of microcirculation disorders and blood rheology in patients with inflammatory bowel diseases (IBD). In this review, the importance of microcirculation disorders in the formation and progression of systemic changes in patients with IBD is considered from a comprehensive perspective. The role of changes in the structure of the endothelium and the intensity of blood flow through the microvessels in this pathology is described. These mechanisms are revealed in the light of the involvement of hemorheology in the support of microcirculation in normal and in disorders of the hemostatic system. The significance of changes in the rheological properties of blood in the pathogenesis of IBD is clarified. In general, the literature data strongly suggest that a significant role in the pathogenesis of IBD belongs to microcirculation disorders and changes in the rheological properties of blood, determined by the aggregation and deformability of red blood cells. At the same time, shifts in microcirculation contribute to the development of mutually aggravating processes (ischemia, hypoxia) and, as a result, exacerbation of the inflammatory process in IBD.

This peer-reviewed textbook was prepared by renowned Russian specialists in pediatric gastroenterology and hepatology, Professors Rita Rafgatovna Kildiyarova (I.M. Sechenov First Moscow Medical University) and Yuri Fedorovich Lobanov (Altai State Medical University, Barnaul) - our good colleagues and friends. This is the second edition of this unique textbook, which stands out from traditional manuals published in our country, primarily due to its extensive use of both visual and informational materials. Visual teaching aids, like atlases, are the most complex, yet also the most sought-after type of scientific and pedagogical literature. Writing them requires a special skill: in addition to a thorough knowledge of the subject, authors must possess a unique creative spirit and a desire to convey knowledge and help medical students master the specialty in the most accessible and engaging manner.

Inflammatory bowel disease (IBD) is a systemic disorder. Late diagnosis, inadequate therapy, and poor patient compliance lead to extraintestinal complications, worsening the course and prognosis of the underlying disease. The absence of specific manifestations of pericarditis, as well as the prominent symptoms of the underlying disease, can mask extraintestinal manifestations. A multidisciplinary approach helps prevent complications, achieve remission, and improve quality of life.

Noonan-like syndrome with anagen hair loss is a RAS pathology and is characterized by craniofacial features resembling Noonan syndrome, a spectrum of cardiovascular abnormalities, cognitive deficits and behavioral distorders, short stature usually associated with growth hormone deficiency, a unique combination ectodermal disorders. It results from a missense variant (c.4A>G, c.Ser2Gly) in the SHOC2 gene, located on chromosome 10q25, which encodes a protein that facilitates signaling through the RAS mitogen-associated protein kinase pathway, triggering a number of cellular processes. The prevalence of the syndrome is less than 1 in 1,000,000 (worldwide). Evidence has been obtained that disturbances in the level of expression and activation of the Ras family signaling pathway and its downstream kinases, such as Raf/MEK/ERK1-2, contribute to the pathogenetic mechanisms of the development of autoimmune diseases. Description of a clinical case. We present a previously undescribed clinical case of the development of juvenile arthritis associated with Crohn’s disease in a 13-year-old girl with Noonan-like syndrome with hair loss in the anagen phase. At birth, the patient was diagnosed with a congenital heart defect (multiple atrial septal defect), corrected at 4 years, articular syndrome debuted at 8 years 4 months, intestinal syndrome at 10 years 4 months. Genetic analysis was carried out only at 10 years 7 months, DNA sequencing results were obtained and a pathogenic variant of the nucleotide sequence of the SHOC2 gene was identified in a heterozygous state (c.4A>G, p.Ser2Gly). As a result of the analysis of clinical data, laboratory and instrumental studies, a diagnosis was made: “Juvenile arthritis (pauciarticular variant) associated with Crohn’s disease (ulcerative bauginitis, ulcerative ileitis, catarrhal jeunitis, aphthous left-sided colitis, erosive gastritis). Noonan-like syndrome with hair loss in the anagen stage 1. Hypopituitarism. Partial growth hormone deficiency. Condition after ASD repair.” The girl received treatment: a course of glucocorticosteroids (methylprednisolone) with gradual withdrawal, methotrexate, adalimumab and mesalazine with positive dynamics. Conclusion. Pediatricians need to remember the possibility of developing autoimmune diseases in children with NPS, the need for their early diagnosis, timely referral to specialists and adequate therapy.

A clinical case of a child with comorbid pathology demonstrates the high importance of alertness of specialists of various profiles of the pediatric network. Doctors of the pediatric phthisiology network are of no small importance, since in children with genetic diseases, tuberculosis can proceed under the «masks» of other pathologies. Mucopolysaccharidosis type I (MPS I) is a rare genetic disease caused by a mutation of the IDUA gene, which encodes the enzyme alpha-L-iduronidase. Hurler syndrome, which is the most severe form of MPS I, requires special attention to prevent the development of severe complications, which often lead to death.

Acute drug-induced pancreatitis remains a challenging problem in clinical gastroenterology, toxicology, and intensive care. According to the World Health Organization, more than 500 drugs have been described as causing drug-induced acute pancreatitis. This article presents current understanding of the etiology of acute pancreatitis caused by various medications. A clinical case of acute pancreatitis in a 15-year-old girl with combined drug poisoning (carbamazepine and clozapine) is described.

Biallelic pathogenic variants of the AIRE gene lead to the development of autoimmune polyglandular syndrome type 1 (APS1; OMIM: 240300). The syndrome most often manifests with chronic candidiasis of the skin and mucous membranes in early childhood. As the disease progresses, hypoparathyroidism and Addison’s disease may be observed in the clinical picture. However, the symptoms of the disease are diverse and vary widely even among members of the same family. This article describes a patient - a three-year-old boy with signs of severe diarrhea and symptoms of hepatobiliary tract involvement. Skin and endocrine manifestations were absent at disease onset. Whole exome sequencing (WES) identified two previously described pathogenic variants in the AIRE gene: NM_000383.4: c.769C>T p.(Arg257Ter) and NM_000383.4: c.1302C>A p.(Cys434Ter). Sanger sequencing and family testing confirmed the compound heterozygous position of these variants. This case demonstrates an atypical manifestation of APS1: diarrhea with malabsorption syndrome and cholestatic liver disease.

The article provides brief information about infantile hemangioma, a benign vascular tumor associated with the proliferation of endothelial cells. Modern views on the pathogenesis, classification of infantile hemangioma and treatment approaches are presented. Information on infantile liver hemangioma is provided separately. The problem of using beta-blockers in the treatment of infantile hemangioma is discussed. Using the example of a clinical case, the effectiveness of beta-blockers in the treatment of liver hemangioma has been demonstrated.

Congenital anomalies of the stomach include malformations of the stomach and its ligamentous apparatus (volvulus or kink of the stomach), which cause anatomical and topographic abnormalities with a slowdown in the evacuation of gastric contents into the duodenum. A similar clinical picture - vomiting, bloating and abdominal pain - have functional motility disorders of the upper gastrointestinal tract (GIT), such as cascade stomach and acute gastric dilatation. And although the symptoms of such anomalies can occur from the early months of life, diagnosis is often delayed for many years. The article presents an observation of a rare combination of cascade stomach with volvulus, which manifested itself as symptoms of partial high intestinal obstruction in a boy from the neonatal period. The criteria for these diseases are given, the need for instrumental studies, including esophagogastroduodenoscopy, X-ray of the gastrointestinal tract with contrast and diagnostic laparoscopy is shown.