No 1 (2026)
LEADING ARTICLE
5-15 377
Abstract
The “origins of health and disease” hypothesis suggests that early developmental and intrauterine growth factors influence the risk of chronic diseases, including those affecting the digestive system, in later life. The role of intrauterine and early postnatal developmental factors in negatively influencing cell differentiation and tissue formation in the fetus/newborn, the development of age-related diseases (coronary heart disease, diabetes, cholelithiasis, etc.), and the onset of aging processes is discussed. Aging is viewed as a latent, preclinical stage in the onset and progression of these diseases. However, both chronic diseases and aging, as genetically programmed processes, can be partially controlled by slowing their progression through lifestyle modification, diet (calorie restriction), oxidative stress management, and hormonal influences. Potential prenatal and postnatal preventive measures, other interventions, and future research directions are discussed.
ORIGINAL ARTICLES
16-23 73
Abstract
Goal is to assess and compare Health related quality of life (HRQOL) in children and adults with celiac decease (CD) and explores how both clinical characteristics and adherence of gluten free diet (GFD) affect their perceived health status. Materials and methods. We recruited 149 respondents from 12 to 70 years old with CD Group 1 consisted of 98 children, average age 12.5 years; group 2 included 51 adults, average age 35.2 years. The comparison group consisted of 22 healthy children, average age 12.3 years. For the HRQOL assessment, we used the SF-36 questionnaire. Patients, aged 12 to 18 years, were guided in filling out the questionnaire by trained pediatric gastroenterologists. Additionally, we assessed age at the time of the survey and at the time of diagnosis, and the duration of the gluten-free diet. We analyzed parametric or non-parametric variables and frequencies as appropriate. Results. The age of adult patients at the time of diagnosis was 28.2±4.6 years; the average duration of gluten-free diet was 5 years. In children, the age at the time of diagnosis was 7.6±1.7 years; the average duration of the diet was 2.5 years. The period from the onset of symptoms to diagnosis was 6.8 years in adults and 2.4 years in children (p=0.001). We found that HRQOL of children with celiac disease approaches those of healthy children, with the exception of a significant decrease in the Social Functioning (SF) index. HRQOL scores in adults were significantly worse than in children, especially scores assessing psychological and mental component summary score: Vitality (VT), Social Functioning (SF), Role-Emotional Functioning (RE), and Mental Health (MH). Conclusions. Health-related quality of life indicators in children and adults with celiac disease characterized by lower values in adult patients. HRQOL indicators in children with celiac disease are close to those of healthy children, with the exception of reduced indicator of social adaptation, which is probably associated with adherence to a restrictive diet. In adult patients, low scores on scales characterizing the psychological aspects of health perception may be associated with later diagnosis of the disease, late prescription of a gluten-free diet, and the presence of concomitant pathology.
A. S. Badyan,
E. V. Dudnikova,
E. V. Nesterova,
V. G. Bedarev,
V. S. Zharov,
E. S. Mailler,
V. A. Kuzmina
24-32 96
Abstract
Introduction. Functional dyspepsia (FD) is a widespread disease, which, according to modern studies, can affect up to 12-20% of the child population. According to clinical guidelines, combination therapy is used to treat FD, including normalization of the daily routine and nutrition, drug therapy, and physiotherapy. Objective: to evaluate the possibility of using an electrostatic massage device in the complex therapy of FD in children. Materials and methods: this work was a prospective single-center study. Thirty patients aged 6 to 15 years with a diagnosis of FD were examined. A clinical examination of patients, detection of Helicobacter pylori, and an assessment of the quality of life (QOL) using the PedsQL™ 4.0 Generic Core Scales questionnaire were conducted. The patients were prescribed standard drug treatment, as well as therapy with the Elgos device in a specialized mode. Statistical data processing was performed using the IBM SPSS Statistics 25 program. Results: the initial assessment of QOL showed a significant decrease in the number of points in all children with FD. After the course of therapy, the median disappearance of pain syndrome was 5.0 days [Q1-Q3: 4.0-5.0], 95% CI: 4.10-5.23, dyspeptic - 3.0 days [Q1-Q3: 3.0-5.0], 95% CI: 3.20-4.53, asthenovegetative - 4.0 days [Q1-Q3: 2.0-4.0], 95% CI: 2.97-4.23. In the group with a mixed variant of FD, the relief of pain and dyspeptic syndromes was statistically significantly earlier in comparison with patients with epigastric pain syndrome: p = 0.035 and p < 0.001, respectively. There was a statistically significant decrease in the level of pain syndrome, the median VAS after treatment was 0.0 points [Q1-Q3: 0.0-1.0], 95% CI: 0.28-0.79, p < 0.001. There was an increase in all quality of life indicators according to the PedsQL™ 4.0 questionnaire scales. Conclusion: the use of combination therapy in the treatment of FD showed high efficiency and good compliance in patients. Further studies are needed to assess the effectiveness of physiotherapy, including the device in the treatment of FD.
33-40 60
Abstract
Aims. To study the features of the course of chronic H. pylori-associated gastroduodenitis in children of three types of constitution and to develop a management algorithm for each of them. Materials and methods. The analysis of the examination data of 250 patients with a diagnosis of Chronic gastroduodenitis aged 4 to 17 years, selected in the study group according to the inclusion and exclusion criteria, was carried out. The age and sex composition, features of the clinical course of the disease, infection with the bacterium H. pylori, data from laboratory and instrumental studies, and the effectiveness of eradication antihelicobacter therapy were evaluated. Based on the data obtained, a therapeutic and diagnostic algorithm for the management of asthenics, normosthenics and hypersthenics with this disease has been developed. Results and conclusion. Based on the study, risk groups for the development of HP-associated chronic gastroduodenitis were identified: asthenic girls over the age of 12, due to their tendency to more frequent development of the disease; girls and boys of the hypersthenic constitution type 4-17 years old, due to a more severe course of the disease and an insufficiently effective response to eradication antihelicobacter therapy. It is proposed to use symptomatic treatment (antispasmodics, antacids, prokinetics) as a starting therapy in children outside the risk group. In patients at risk, based on the results of an instrumental study, a decision is made on the appointment of a three-component or four-component eradication regimen.
41-50 51
Abstract
The aim: to characterize the nutritional characteristics of children with autism spectrum disorder (ASD), taking into account individual sensory strategies, as well as to evaluate the relationship of sensory avoidance and sensory search with food choice and the nature of gastrointestinal complaints. Materials and methods: а single-center observational analytical cross-sectional study was conducted with the participation of 105 children with a verified diagnosis of ASD aged 3 to 17 years. Based on a clinical examination and a questionnaire, the parents (legal representatives) of the children were divided into a control group without eating disorders (n=31) and a main group with eating disorders (n=74). The original author’s questionnaire developed on the basis of Sensory Profile-2, BAMBI and CFNS (Cronbach’s α = 0.75) was used to evaluate sensory factors. Additionally, the structure of the diet, behavioral features of food intake and complaints from the gastrointestinal tract (GIT) were analyzed. Statistical analysis included descriptive methods and Spearman’s correlation analysis (p <0.05). Results: in the group of children with eating disorders, sensory avoidance was detected in 61%, sensory search in 27%, and mixed type in 12%. Sensory avoidance was associated with a preference for homogeneous foods of neutral taste and temperature, dietary restriction, and a higher incidence of constipation. Sensory search was characterized by a desire for intense gustatory and textural stimuli, picacism, and a tendency to loose stools and abdominal pain. Statistically significant correlations were found between sensory triggers, the choice of food categories, and functional symptoms of the gastrointestinal tract. Conclusion: eating disorders in children with ASD are formed within the framework of various sensory strategies that determine both the structure of the diet and the nature of gastrointestinal complaints. Consideration of the child’s sensory phenotype is a prerequisite for a personalized approach to the diagnosis and correction of nutritional and functional gastrointestinal disorders.
51-61 78
Abstract
The occurrence of asthenic syndrome (AS) with changes in nutritional status is possible after coronavirus infection. Objective. To assess the features of nutritional status and asthenic syndrome in children after COVID-19 infection. Materials and methods. A total of 177 children aged from 6 to 17 years examined: 147 (83.1%) were infected with SARS-CoV-2 (group 1); 30 (16.9%) had rhinovirus infection (group 2). Parameters of physical development and the occurrence of AS 1, 3, 6, 12, 24 and 36 months after the disease in both groups were assessed. Results. Lipid and carbohydrate metabolism disorders occur starting from the 12 month after COVID-19 infection. AS develop from the first days of the disease (96.6%) and persist for 3 years after COVID-19 illness (60.4%). Age (OR = 0.74; 95% CI: 0.56-0.98) and height (OR = 0.97; 95% CI: 0.94-0.99) are factors, that influence the development of AS the 1st month after, height - the 12 month after COVID-19 exposure (OR = 0.91; 95% CI: 0.83-0.99) [p < 0.05]. The severity of AS is influenced by perinatal factors. Initially preterm infants experienced more severe asthenia, than full-term infants [88 (79; 93) and 78 (64; 90) points; p=0.036]; but at the end of the 3rd year value decreases by 2 times - [44.5 (39; 53) and 53 (48; 61) points, respectively; p=0.028]. Prematurity is a protective factor against AS at the end of the 3rd year after coronavirus infection (OR = 0.24; 95% CI: 0.06-1.00; p=0.049). Conclusion. Asthenic syndrome and changes in nutritional status after coronavirus infection are related, require timely detection and adequate correction.
S. V. Bairova,
A. D. Balaganskaya,
L. V. Sakhno,
I. V. Koltuntseva,
M. O. Revnova,
I. M. Gaiduk,
A. I. Khavkin,
D. A. Shelkovnikova
62-68 64
Abstract
Introduction. The problem of nutritional status imbalance in adolescents, from obesity to nutritional deficiency, remains highly relevant in pediatrics. Adolescence is recognized as a critical stage for the formation of eating behavior and physical health. Distorted self-assessment of body weight is associated with unhealthy behavioral patterns and disorders of the psychological state of adolescents. The purpose of the study. to study objective indicators of the nutritional status of adolescents aged 15-17 in St. Petersburg and compare them with their parents’ self-assessment and opinion. Materials and methods. An assessment of the nutritional status and a survey of 174 adolescents (122 girls and 52 boys) aged 15-17 years, students in grades 9-11, three secondary educational schools in St. Petersburg and a survey of 32 parents of children participating in the survey were conducted. The author’s questionnaire for students consisted of 32 questions, and for parents of 20 questions, Nutritional status was assessed using the WHO AnthroPlus automatic program. Results. Among the 174 adolescents examined, 125 (71.8%) had satisfactory nutritional status, 41 (23.5%) had borderline values: 17 (9.7%) had excess body weight, and 24 (14%) had nutritional deficiency. Significant nutritional status disorders were observed in 8 people (4.6%), 6 (3.4%) were malnourished and 2 (1.1%) were obese. Boys had a generally higher percentage of nutritional disorders -30.8% (16 people) than girls -28.3% (35 people). When assessing self-perception of their nutritional status, it was revealed that the majority of adolescents (82.2% (100) girls and 71.2% (37) boys) rate their weight as normal. The assessment of weight as overweight is most common in girls -14% (17), and boys perceive their weight as deficient more often - 21.2% (11). In a survey of adolescent parents, 80% (26) objectively assess their children’s body weight (the majority of them were children with normal nutritional status), which indicates a higher level of perception compared to the adolescent sample. However, 20% (6) gave a biased assessment of children, both in the direction of increasing and decreasing the nutritional status of their children in children with a harmonious nutritional status. Conclusions. The study showed a fairly high percentage of eating disorders in adolescents, which is more common in boys in the direction of weight deficiency, and in a smaller percentage in girls, but in the direction of overweight. The violation of the objectivity of perception of their nutritional status is more pronounced in girls, in the direction of assessing normal, and sometimes deficient weight as excessive. Boys underestimate their overweight and underestimate their perception of normal weight. This trend is probably explained by the stereotypes of modern youth regarding body structure: boys should be big, and girls thin. An unbiased assessment of a child’s physical condition can have an indirect effect on the formation of eating habits and on a teenager’s self-esteem. The development of educational programs to objectify the perception of one’s nutritional status, taking into account the family factor, will prevent the development of psychological and somatic disorders both in adolescence and older age.
69-77 63
Abstract
Introduction. In the era of intensive technological progress and increasing anthropogenic impact, children and adults of the country are faced with an increase in the volume of harmful emissions into the atmosphere, water bodies and soil. This, in turn, can lead to an increase in chronic diseases, especially among the younger generation. In this regard, it becomes relevant to study the microelement status of a child as one of the biomarkers of the development of a wide range of chronic diseases. Objective of the study. To optimize the early diagnosis of chronic diseases of the gastrointestinal tract by assessing the state of macro- and microelement status in children depending on the ecological state of the environment. Materials and methods. The study was conducted in several stages. At the first stage, the microelement composition of the hair of 186 people with various diseases of the gastrointestinal tract, living in the territories of the Krasnodar Territory with varying degrees of environmental pollution, was studied. Of these, there were 64 boys (34.4%), the average age of 10.2 ± 1.7, and 122 girls (65.6%), the average age of 7.6 ± 2.1. At stage II, the state of the environment in various territories of the Krasnodar Territory was assessed. The study of the influence of the ecological state of the environment on the development of digestive diseases was carried out by determining their relationship with environmental pollutants. Results and discussion. Among the diseases of the digestive tract in children of the Krasnodar Territory, the leading ones are stomach diseases (16077-46.6%) and cholelithiasis (13134-38.1%). In 95% of cases, unfavorable environmental conditions were a risk factor for the development of chronic gastroduodenitis (OR = 1.47, CI 1.32-1.87) and cholelithiasis (OR = 1.52, CI 1.22-1.73). The increase in diseases of the esophagus, stomach and duodenum, liver and bile ducts is significantly affected by soil pollution with pesticides and household waste (t=2.30, p≤0.05 and 4.66, p≤0.01; t=2.60, p≤0.05 and t=3.13, p≤0.01; t=2.06, p≤0.05 and t=1.72, p≤0.003, respectively), and intestinal diseases are affected by soil pollutants with pesticides (t=2.39, p≤0.05). In addition, the ecological state of the environment in 95% of cases is a risk factor for the accumulation of the conditionally essential microelement arsenic (OR = 2.3, CI 1.24-3.12), essential elements - chromium and selenium (OR = 3.14; CI 1.21-3.48 and OR = 1.5; CI 1.29-2.18, respectively). Conclusion. The main pollutant that influences the development of gastrointestinal diseases are pesticides. In this regard, in areas with an unfavorable environmental background, it is necessary to develop individual programs for monitoring and rehabilitation among the child population with gastrointestinal diseases. The study of macro- and microelement status in children can serve as a marker of early manifestations of gastrointestinal diseases in children, which in turn will not only help prevent the disease, but also improve the child’s health in general.
SURGICAL GASTROENTEROLOGY
N. F. Shchapov,
E. V. Ekimoskaya,
D. V. Kulikov,
E. N. Andreeva,
O. N. Ivanitskaya,
D. A. Severinov,
V. V. Sytkov
78-83 56
Abstract
Aim: To present our clinical experience with the effective use of laparoscopic enucleation for enteric duplication cysts in newborns. Materials and Methods: This retrospective study included 20 pediatric patients diagnosed with gastrointestinal duplication cysts who underwent laparoscopic cyst enucleation between 2018 and 2021. A key technical feature of the procedure was the avoidance of monopolar coagulation in favor of cold dissection using laparoscopic scissors. After complete excision of the cyst’s mucosal layer, the intestinal wall was reconstructed with a muscular-serosal flap derived from the cyst wall. Cysts were localized in various segments: stomach (n = 2), duodenum (n = 3), small intestine (n = 14), and colon (n = 1). The mean age at surgery was 40 ± 35.3 days (range: 6 days to 5 months). Results: The mean operative time was 84.4 ± 27.35 minutes. No intraoperative complications were reported. All patients received parenteral nutrition for 3-5 days postoperatively. Complications occurred in three cases: two children developed bowel perforation requiring enterostomy, and one experienced intestinal volvulus necessitating segmental bowel resection. All complications occurred in patients who underwent enucleation with monopolar coagulation. In the subsequent 15 cases, enucleation was performed using only laparoscopic scissors, with no complications observed. The mean postoperative hospital stay was 15.6 ± 10.48 days. No cases of intestinal stenosis or cyst recurrence were recorded during follow-up. Conclusion: Laparoscopic enucleation is a safe and effective surgical approach for managing enteric duplication cysts in neonates and infants. The technique preserves the continuity of the intestine without requiring segmental resection. Cold dissection with scissors minimizes the risk of complications associated with thermal injury to the intestinal wall.
REVIEW
84-90 71
Abstract
Brief information on drug-induced liver injury (criteria, classification) is presented, as well as a review of publications on albendazole-induced hepatitis (a total of 21 sources for the entire available period of Internet search with a total of 258 patients). Analysis of publications showed that the risk of hepatotoxicity when taking albendazole, although inferior to paracetamol, is quite expected with its wide prophylactic and therapeutic use. The author presents his own clinical observation of a 9-year-old child, who developed clinical hepatitis and acute liver failure a few days after independent administration of albendazole. Rapid positive dynamics with complete clinical and laboratory normalization during follow-up observation were achieved against the background of infusion and hepatoprotective therapy.
91-98 57
Abstract
Eating disorders and gastrointestinal manifestations are widespread in children with autism spectrum disorders (ASD), but they remain heterogeneous in clinical manifestations and mechanisms of formation. This review summarizes current data on the role of sensory dysfunction and intestinal microbiota in the formation of eating behavior and gastrointestinal symptoms in ASD. It has been shown that sensory phenotypes, primarily sensory avoidance and sensory search for stimuli, are key determinants of nutritional selectivity, dietary structure, and the nature of gastrointestinal complaints. The pathophysiological foundations of the brain-gut-microbiota axis are considered, including changes in the microbiota profile, impaired intestinal barrier function, and signs of chronic low-level inflammation, which may enhance innate sensory features and contribute to the consolidation of pathological eating patterns in certain subgroups of children with ASD. Special attention is paid to the genetic and epigenetic mechanisms affecting sensory processing, receptor sensitivity, and appetite regulation, which partially explains the high interindividual variability of clinical manifestations and the heterogeneous effectiveness of standard dietary interventions. The need for a phenotypically oriented approach to the assessment of nutritional and gastrointestinal disorders in ASD is emphasized, based on a comprehensive analysis of sensory characteristics, eating behavior and the state of the gastrointestinal tract.
A. A. Moskovtsev,
D. M. Zaychenko,
Ya. R. Astafieva,
S. G. Morozov,
O. V. Papisheva,
L. A. Kharitonova,
M. L. Babayan
99-108 62
Abstract
Ulcerative colitis (UC) is a chronic inflammatory bowel disease (IBD) that develops through the interaction of genetic, immunological, environmental factors, and intestinal microbiota. The review outlines the current understanding of ulcerative colitis pathogenesis, with an emphasis on the poorly understood adaptive responses of the intestinal epithelium. Enterocytes directly interface with the intestinal lumen, which harbors numerous potentially aggressive factors that can cause disruption of cellular homeostasis and macromolecular damage, ultimately triggering cellular stress responses. Endoplasmic reticulum stress is discussed as one of the key molecular mechanisms involved in the development of UC. The review considers the specific features of regulation of the ER stress response in the intestinal mucosa, in particular, the protective role of the ER sensor IRE1β as an antagonist of IRE1α, which suppresses proinflammatory signals, maintains the barrier function, and prevents dysbiosis. Impaired IRE1β function is associated with increased susceptibility to colitis, making it a potential therapeutic target, for example, to enhance mucin production and restore barrier function in IBD. The review also covers the PERK and ATF6 branches of the ER stress response.
L. A. Kharitonova,
O. V. Papysheva,
O. V. Dedikova,
I. D. Sidorova,
T. A. Mayatskaya,
K. V. Matveeva,
T. V. Kucherya
109-116 175
Abstract
This review covers over five years of literature on the development of the intestinal microbiota of infants born to mothers with gestational diabetes mellitus (GDM). This review involves multiple sources of microbial colonization: Vaginal microbiota: During natural childbirth, the infant passes through the mother’s birth canal, coming into contact with her vaginal flora. The maternal vaginal microbiota enriches the newborn’s gut with bacteria that form the basis of the future microbiota. Maternal intestinal microbiota: Recent studies have shown that the infant’s intestinal microbiota contains more bacteria from the mother’s intestinal microbiota than from the vagina. Breastfeeding: Breast milk contains a wide range of microorganisms, such as Bifidobacterium and Lactobacillus, which are found in the mammary gland and are passed on to the infant through milk. It also contains prebiotics (e. g., oligosaccharides), which serve as food for beneficial bacteria. The state of somatic health of the mother and methods of delivery. Study Objective: To study factors influencing the development of intestinal microbiota in infants born to mothers with gestational diabetes, depending on the type of delivery (cesarean section, vaginal delivery). Study Material and Methods: A literature search was conducted using the following library platforms: PubMed, eLIBRARY
127-135 55
Abstract
The article is a review devoted to the problem of gastrointestinal tract (GI) injuries in children with chronic kidney disease (CKD). The relevance of the topic is due to the high prevalence of gastrointestinal symptoms (from 43% to 82.6%), which increases progressively as kidney function decreases, reaching 70-80% at the terminal stage of CKD. Pathological changes in the gastrointestinal tract in this category of patients have a multifactorial pathogenesis, the key ele-ments of which are uremic intoxication, a violation of the intestinal microbiome with a decrease in the production of short-chain fatty acids, a violation of the in-tegrity of the intestinal barrier and motor disorders. These mechanisms form a vi-cious circle of the bi-directional “gut-kidney” axis, exacerbating systemic in-flammation and the progression of the underlying disease. The review describes in detail the clinical manifestations, including lesions of all parts of the gastroin-testinal tract. The direct influence of gastrointestinal pathology on the develop-ment of protein-energy deficiency and growth retardation is emphasized, which is extremely important in pediatric practice. The principles of multidisciplinary pa-tient management based on early nutritional screening and targeted correction of disorders have been formulated. The conclusion is made about the need for a proactive approach to the diagnosis and treatment of gastrointestinal pathology as an integral part of comprehensive care for children with CKD to improve the overall prognosis and quality of life.
117-126 67
Abstract
The history of studying inflammatory bowel diseases (IBD) spans more than a century. One of the earliest documented descriptions of inflammatory bowel disease dates back to 1859. Since then, these conditions have undergone significant pathomorphosis. This review analyzes current data on the causative factors contributing to the development of IBD, as well as the pathogenetic mechanisms underlying inflammatory bowel diseases and the evolution of their clinical presentation. Particular attention is given to therapeutic strategies and the effectiveness of anti-inflammatory treatment, taking into account the patient’s age and disease severity. Special focus is placed on inflammatory bowel disease unclassified (IBDU), which occurs in pediatric practice nearly twice as often as in the adult population. IBDU may represent either a transitional stage toward ulcerative colitis or Crohn’s disease, or a distinct stable phenotype. The etiology and pathogenesis of the disease are considered to result from a complex interaction between genetic factors, intestinal dysbiosis, and environmental influences. The clinical characteristics of IBDU in children demonstrate a more favorable long-term prognosis, with a lower need for surgical intervention and biological therapy compared to classical forms of IBD. Materials and Methods: To address these objectives, a search of randomized controlled trials and meta-analyses published in contemporary domestic and international literature over the past five years was conducted using specialized electronic databases (PubMed). Conclusion: According to current literature, the incidence of IBD is steadily increasing in both adults and children, with a notable trend toward younger age at onset. Priority therapeutic approaches in pediatric IBD include systemic and topical anti-inflammatory therapy with glucocorticosteroids, immunosuppressive therapy with thiopurines, and targeted biological therapy.
136-142 59
Abstract
Celiac disease has historically been associated by doctors with underweight due to malabsorption; in recent decades, the clinical picture of the disease has become more heterogeneous, including its atypical manifestations. The link between celiac disease and overweight and obesity is increasingly recognized. The article presents an analytical review of scientific research on celiac disease among pediatric patients. A number of studies in children with celiac disease show that overweight/obesity is not uncommon for celiac disease. In addition, there is a tendency to develop overweight/obesity in celiac disease patients who strictly adhere to a gluten-free diet. It has been shown that among obese children, the prevalence of celiac disease is comparable to the frequency in the general population. Timely diagnosis of celiac disease in overweight / obese patients allows earlier dietary intervention, which will lead to normalization of morphological changes in the mucous membrane of the small intestine and clinical manifestations of the disease.
CLINICAL CASES
S. Ya. Volgina,
N. A. Solovieva,
G. A. Kulakova,
E. A. Kurmaeva,
A. I. Mukhamadieva,
R. R. Shaydullina
143-152 55
Abstract
Familial intrahepatic cholestasis is a heterogeneous group of genetic disorders affecting the secretion and transport of bile acids. Progressive familial intrahepatic cholestasis (PFIC) may debut at different periods of childhood and in adults. Currently, 13 types are known, associated with changes in various genes and extreme phenotypic variability. PFIC2 type is associated with changes in the ABCB11 gene, causing deficiency or dysfunction of the ATP-binding transport protein that excretes bile acids from the hepatocyte into the bile canaliculi against the concentration gradient. Accumulation of bile acids in hepatocytes leads to the development of cholestasis, ranging from transient to fatal progressive familial intrahepatic cholestasis, accompanied by jaundice, growth retardation, liver cirrhosis, liver failure. Timely diagnosis is extremely important for the initiation of therapy to prevent cholestatic liver damage. The presented clinical case demonstrates the possibility of nosological diagnosis of a rare hereditary pathology and the effectiveness of the therapy at this stage. The conducted genetic study allowed us to diagnose familial intrahepatic cholestasis. The clinical phenotype in this patient does not fully correspond to benign recurrent intrahepatic cholestasis type 2 (OMIM # 605479) and PFIC2 (OMIM # 601847), an intermediate phenotype is likely to occur. Dynamic observation and control of clinical, laboratory and imaging characteristics are necessary in order to timely detect disease progression.
164-167 48
Abstract
Biliary tract dysfunction is one of the most common functional disorders of the gastrointestinal tract in childhood. In clinical practice, a combination of problems can often occur - functional pathology of the gastrointestinal tract with other pathologies, sometimes with rare (orphan) diseases, which can be suspected during follow-up examination based on the results of laboratory and instrumental studies and clinical and anamnestic data. The article presents a clinical case of dizygotic twins who underwent a diagnostic search from biliary dysfunction to hypophosphatasia. Hypophosphatasia (GFF) is an orphan disease characterized by a decrease in the level of alkaline phosphatase and systemic manifestations, mainly from the musculoskeletal system, neurological symptoms, and respiratory damage. The lack of specificity and wide variability of clinical symptoms often complicates the diagnostic process, which leads to life-threatening conditions and disability of the patient.
S. V. Fedorov,
A. A. Vagapov,
E. S. Kafarov,
V. U. Satayev,
A. Sh. Khuzhakhmetova,
R. R. Gabidullin,
R. M. Garipov,
A. R. Baykhanova
153-163 119
Abstract
Rationale. Research on Superior Mesenteric Artery Syndrome (SMAS, or Wilkie’s Syndrome) is a crucial step towards a deeper understanding of its etiopathogenetic mechanisms. The analysis of anatomical and anthropometric characteristics in patients with this syndrome can significantly contribute to the development of predictive models. These models would allow for the forecasting of SMAS development based on baseline constitutional and morphometric parameters. This is particularly significant when planning body mass correction programs, including dietary approaches and bariatric surgery. Objective: To analyze the relationship between metabolic and anatomical-anthropometric factors influencing the development of Wilkie’s syndrome, based on clinical case data. Materials and Methods. We present a case of Wilkie’s syndrome in a 20-year-old female patient (P.), which developed following intentional weight loss due to obesity, approximately 3.5 months after initiating a low-calorie diet. The key relevant patient characteristics, obtained through physical examination, laboratory tests, and imaging studies, are described in detail in chronological order. These include both general parameters (BMI, somatotype) and specific morphometric measurements of the aortomesenteric space and abdominal organ anatomy following weight loss. The article also includes a brief review of the scientific literature focused on the influence of anatomical and anthropometric predispositions on the development of Wilkie’s syndrome. Results. The data obtained from the investigation point to key factors that contributed to the development of Wilkie’s syndrome in our patient. Two primary mechanisms can be identified. The first mechanism is related to pronounced and rapid systemic weight loss, resulting in a body mass deficit (BMI 18.0 kg/m²). This catabolic loss of the retroperitoneal fat layer - specifically from the anterior pararenal and the unpaired median spaces - led to a critical narrowing of the aortomesenteric space. This was evidenced by a reduction of the aortomesenteric angle (AMA) and aortomesenteric distance (AMD) to 6° and 3 mm, respectively. This narrowing caused compression of the third part of the duodenum passing through this space, resulting in its obstruction. Furthermore, the patient’s asthenic somatotype suggests a pre-existing, more acute origin angle of the Superior Mesenteric Artery (SMA). The second mechanism involves gastropotosis and gastrectasis, which developed due to a catabolic weakening of the gastric ligaments and subsequent food retention. In our view, this led to compression against the posterior abdominal wall and the underlying retroperitoneal structures, thereby exacerbating the aortomesenteric compression of the duodenum. Additionally, the patient was found to have grade II thoracolumbar scoliosis, which may represent an additional risk factor for Wilkie’s syndrome. Both scoliosis and visceroptosis can develop against a background of muscular-ligamentous laxity, which has its basis in connective tissue dysplasia. Conclusion. This clinical case is of interest due to the rarity and multifactorial nature of the disease. In patients with significant weight loss related to malnutrition or other wasting conditions who are hospitalized with a suspected “acute abdomen,” Wilkie’s syndrome should be considered as a differential diagnosis. During the initial workup, standard laboratory and instrumental methods - such as endoscopy, ultrasonography, and contrast radiography - can be useful but lack sufficient sensitivity and specificity. Furthermore, upon admission, key biochemical parameters, red blood cell indices, and the leukocyte formula may remain within reference ranges or show only minor deviations. Computed tomography angiography with 3D reconstruction is the most informative diagnostic method. This technique not only allows for the direct visualization of duodenal compression between the aorta and the superior mesenteric artery but also enables a detailed analysis of the underlying anatomical and anthropometric features contributing to its development.
K. S. Zizyukina,
H. A. Sarkisyan,
M. V. Samorokovskaya,
Yu. V. Zhirkova,
N. M. Toybu-Khaa,
E. E. Fedotova,
Y. I. Kucherov
168-176 65
Abstract
Lymphangiomas (ICD-10 D18.1) are rare benign malformations of the lymphatic system, characterized by the formation of multiple thin-walled cysts of varying diameters, lined with endothelium and filled with chyle. Lymphangiomas are most commonly located in the head, neck, and axillae, but in less than 2% of cases, they can develop in the omentum, mesentery, abdominal wall, or directly within the abdominal organs. The clinical manifestations of mesenteric lymphangiomas range from asymptomatic to a full-blown acute abdomen. Early detection, accurate diagnosis, and timely surgical intervention are important factors in preventing serious complications from mesenteric lymphangiomas. Complete resection of the lesion is the gold standard for the management of children with mesenteric lymphangiomas. This, combined with long-term follow-up, helps prevent recurrence and achieve a favorable outcome.
ISSN 1682-8658 (Print)




































