Primary ciliary dyskinesia (PCD) is a rare disease (MIM 244400), an autosomal recessive inherited disorder characterized by dysfunction of the motile cilia. The main manifestations of PCD are chronic upper and lower respiratory tract infections, organ malpositions (in approximately 50% of PCD cases (Kartagener syndrome)), congenital heart defects, infertility in men, and an increased risk of ectopic pregnancies in women.

Objective — to present data on current methods applied to diagnosing PCD in the Russian Federation. Diagnosing PCD is challenging, as there is no single “gold standard” that allows accurate identification or exclusion of the disease. This requires a series of specialized studies relying on a combination of clinical data, genetic testing, and examination of ciliary ultrastructure and function. Additional tests include exhaled nitric oxide levels and repeated tests on ciliary culture samples. Pediatricians, neonatologists, pulmonologists and otorhinolaryngologists should maintain high awareness of PCD and refer patients to specialized centers to confirm the diagnosis.

Undiagnosed comorbid conditions are a common cause of difficulty in achieving control of bronchial asthma (BA). One of the comorbid conditions in asthma is bronchiectasis (BE).

Objective. To characterize clinical, laboratory, and radiological features of lung damage in children hospitalized for asthma and BE.

Materials and methods. Patients with asthma and BA were observed at the Morozovskaya Children’s City Clinical Hospital from January 2023 to July 2025. The criteria for inclusion in the study were pediatric age, confirmed asthma, and the presence of BE unrelated to cystic fibrosis. The following diagnostic tools were used: analysis of clinical history, allergology and immunology tests, radiography, thoracic computed tomography, fiberoptic bronchoscopy with microbiological examination of bronchoalveolar lavage fluid, pulmonary function test, as well as the study of ciliary motility, and genetic tests.

Results. In the period from January 1, 2023 to July 1, 2025 19 children with asthma and BE admitted to the Department of Pulmonology at the Morozovskaya Children’s City Clinical Hospital accounted for 1,4% of all children with asthma hospitalized during this period (19/1392). There were 10 (53%) male patients with asthma and BE; at the moment of admission, the median age of patients was 9.0 [7.0; 11.0] years; the median age at the onset of asthma was 1,5 [0.54; 2.0] years, asthma duration was 8,0 [5.5; 10.0] years, while the median length diagnostic delay was 5,5 [2.75; 8.5] years. Upon admission, 17 (89%) children reported a decrease in exercise tolerance, 15 (79%) — shortness of breath, 10 (53%) — dry cough; 6 (32%) patients had dry wheezing, 3 (16%) — wheezing. The levels of eosinophils and monocytes were respectively 0,22 [0.07; 0.34] and 0,42 [0.33; 0.46] cl/ml; median forced expiratory volume in 1 sec. was 80,0 [47.0; 89.0]%. A positive family history of allergy was present in 12 (63%) patients, concomitant allergic rhinitis in 10 (53%), and atopic dermatitis in 6 (32%). Primary ciliary dyskinesia was confirmed in 2 (11%) patients, while atopic asthma prevailed in 15 (79%), and non-atopic asthma in 4 (21%). At the time of enrollment, 13 (68%) patients had moderate asthma, 3 (16%) mild asthma, and 3 (16%) severe asthma; 6 (32%) patients had partially controlled asthma, and 4 (21%) uncontrolled asthma; 10 (53%) patients were hospitalized for asthma exacerbation. Chest CT scans revealed BE in the middle lobe of the right and/or lingual segments of the left lung in 13 (69%) patients, while 14 (74%) patients had traction BE. The majority of patients (13/16) had purulent endobronchitis. The most common pathogen detected in the culture of bronchoalveolar lavage fluid was H. influenzae.

Conclusion. A single-center study was conducted to characterize the clinical, laboratory and radiological outcomes in pediatric patients hospitalized with asthma and BA.

Background. Osteopenia is a pathological conditionmore most often observed in preterm newborns with a birth weight under 1500 g. It is characterized not only by vitamin D deficiency but also by insufficent calcium and phosphorous levels. Understanding hereditary risk factors for low vitamin D₃ may have great practical value for predicting bone metabolism disorders in preterm infants.

Objective. This study aimed to investigate the association between genotypic and allelic frequencies of rs1800012 polymorphism in the COL1A1 gene and predisposition to osteopenia in preterm infants conceived through artificial insemination.

Material and methods. The study involved 225 preterm babies divided into two categories depending on the method of conception. The main consisted of children conceived via in vitro fertilization (IVF), while the control category included children conceived naturally. The analysis focused mainly on the COL1A1 gene in these observation groups.

Results. In a cohort of preterm infants conceived by IVF, there was a significant increase in homogeneity of T/T genotype (χ² = 8.13, p = 0.0053) and in the non-protective T allele (χ² = 7.15, p = 0.0083) within the polymorphic variant rs1800012 of the COL1A1 gene. The risk of osteopenia associated with the rs1800012 variant was identified in 46% of children in the IVF group and in 34% of children in the control group.

Conclusion. The identified genetic differences are hereditary and are not associated with the IVF procedure itself. Understanding the genetic determinants that contribute to decreased vitamin D₃ may play a key role in predicting osteopenia in preterm infants.

Background. A promising research avenue in recent years has been implementing research findings on biological markers of inflammation into clinical practice. One such marker is fecal calprotectin. The literature contains only isolated reports on fecal calprotectin concentrations in patients with celiac disease, and the available data vary significantly.

Objective. To determine the clinical significance of fecal calprotectin in pediatric celiac disease and to find its relationship with small bowel permeability.

Materials and methods. From January 2018 to June 2019, 42 pediatric patients were examined: 28 with newly diagnosed celiac disease, 14 previously diagnosed children adhering to a gluten-free diet, and 20 apparently healthy, age-matched control subjects. All participants were tested for IgA tissue transglutaminase antibodies and for total IgA (ELISA). Fecal calprotectin levels were also measured using ELISA. Intestinal permeability was assessed using a non-invasive method (after Petrov V.I. et al., 2003).

Results. Fecal calprotectin levels were elevated in newly diagnosed celiac patients (36.6 ± 10.2 мcg/g) compared with the control group (20.9 ± 8.7 мcg/g). In children with refractory celiac disease, fecal calprotectin levels were significantly higher than in both the newly diagnosed group and controls (77.9 ± 24 мcg/g). Assessment of the intestinal barrier showed increased intestinal permeability in celiac patients compared with healthy controls (0.3 ± 0.02 optical units, p < 0.05), with the most pronounced changes observed in newly diagnosed patients (–0.1 ± 0.05 optical units). Correlation analysis revealed a strong positive relationship between fecal calprotectin levels and small bowel permeability in refractory celiac disease (r = 0.96).

Conclusion. In children with refractory celiac disease, fecal calprotectin levels exceed those of both healthy controls and newly diagnosed patients. A strong correlation was identified between elevated fecal calprotectin values and increased intestinal per- meability in children with refractory celiac disease.

CFTR modulators are capable of restoring the function of the CFTR protein, which encodes the chloride channel in cells. A triple therapy containing elexacaftor, tezacaftor (correctors), and ivacaftor (potentiator) has demonstrated the greatest effect. Two drugs containing this combination are registered in the Russian Federation: the original drug Trikafta® and the generic drug Trilexa®.

Objective. To evaluate the efficacy and safety of ivacaftor + tezacaftor + elexacaftor and ivacaftor in children with cystic fi bro- sis in two age groups when switching drugs within the same INN.

Materials and methods. An analysis of the Russian registry (data on targeted therapy) of patients with cystic fibrosis from January 1, 2025, to August 1, 2025 was performed. The efficacy and safety indicators were monitored at the start of therapy (the last day of taking the original drug) and then after 30 and 90 days of taking the generic drug. The study involved 151 patients, who were divided into two age groups: 55 patients aged 6–11 years and 96 adolescent patients aged 12–18 years. The groups were comparable in terms of the key disease indicators.

Results. A significant increase in height and weight was demonstrated in both groups, as well as BMI in the 6–11 year group. In the 12–18 year group, weight and height increased after three months of therapy compared to the start and first month of therapy (weight — p_1–3 = 0.0127), p2–3 =0.007, height — p_1–3 = 0.001, p_2–3 = 0.016). In the 6–11 year old group — weight p_1–2 = 0.009, p_1–3 = 0.004, p_2–3 = 0.009, height p_1–2 = 0.010, p_1–3 = 0.000, p_2–3 = 0.002, BMI p_1–3 = 0.030 p_2–3 = 0.036. Spirometry data achieved with the use of the original drug were high and remained unchanged during 90 days of therapy with the generic drug. Sweat conductivity after one month of therapy increased in the adolescent group (p_1–2 = 0.048), although remaining within the borderline values. Sweat conductivity in the 6–11 year group after one month of therapy decreased, although without a statistically significant difference (p_1–2 = 0.451), remaining within the borderline values. In the 12–18 year group, a decrease in AST was noted after three months of therapy with the generic drug: AST U/l start/last day of taking the original drug — 22.5 (16.8; 29.0), AST U/l after 3 months of taking the generic drug — 21.0 (16.0; 26.0), (p_1–3 = 0.005). A decrease in the total bilirubin (μmol/L) was noted after three months of therapy — 12.25 (9.4; 17.4) compared to the values after one month of therapy with the generic drug — 11.0 (7.9; 16.7), (p_2–3 = 0.017). All parameters were within the reference values. Blood pressure parameters remained unchanged. The incidence of adverse reactions was low, resolved spontaneously, and did not require a dose reduction, temporary or complete discontinuation of the drug.

Conclusion. The conducted study of the efficacy and safety of ivacaftor + tezacaftor + elexacaftor and ivacaftor in children across two age groups after switching medications within the same INN showed that the effect previously obtained with the use of the original drug for more than 12 months is maintained, and the frequency of adverse reactions during therapy with the generic drug does not exceed that when using the original drug. Studies of the efficacy and safety of the generic drug Trilexa® will be continued.

Megaloblastic anemias include B₁₂ deficiency and folate deficiency anemia. The development of megaloblastic anemia caused by a combined deficiency of vitamin B₁₂ and folic acid is a fairly rare condition. This article presents our own clinical observation of a case of megaloblastic anemia in an 11-year-old boy resulting from a combined deficiency of vitamin B₁₂ and folic acid. A special feature of this clinical case is the presence of several comorbid conditions in a child with B₁₂-folate deficiency anemia (pneumonia, Down syndrome, Epstein — Barr virus infection). We believe that the cause for the development of vitamin B₁₂ and folate deficiency in this patient was the recurrent intestinal infections, which led to the development of a malabsorption syn- drome. The megaloblastic anemia was diagnosed during the ex- amination of the child for pneumonia, for which it served as an underlying condition. Our timely initiation of folic acid and cyano- cobalamin therapy ensured considerable clinical improvement of the megaloblastic anemia and contributed to an uncomplicated course of pneumonia in the patient.

Bronchial asthma remains a pressing public health issue due to its high prevalence, increasing incidence, and serious eco- nomic burden. Timely diagnosis, identifiation of predictors of the disease development, as well as assessment of treatment effectiveness are key factors for early detection, prevention of asthma progression, reduction of complication risk, and the development of personalized therapy, improving patients’ quality of life. We demonstrated the prospects and practical significance of using a microcirculation imaging method for disease diagnosis, as well as for assessing the effectiveness of biological therapy (dupilumab) in a patient with severe bronchial asthma.

Cystic fibrosis is a hereditary disease caused by mutations in the CFTR gene. This leads to systemic involvement of the exocrine glands and chronic progression of pulmonary pathology. Сystic fibrosis is currently being transferred into the category of controllable chronic diseases owing to new effective targeted therapies, improved methods of early diagnostics, and greater attention to the patient’s quality of life. In this article, we preent a clinical case of cystic fibrosis in a 14-year-old child, where the diagnostic process began with a CT scan of the paranasal sinuses that revealed features of polypous polysinusitis.

The article presents a clinical case of recurrent upper respiratory tract infections (URTI) with a prolonged and complicated course combined with multiple herpesviruses. Cytomegalovirus and human herpes virus type 6 (HHV-6) were diagnosed based on high IgG antibody titers, detection of viral DNA in nasopharyngeal swabs, and HHV-6 DNA in blood. Clinical manifestations included fatigue and gastrointestinal disorders with notably decreased appetite, abdominal pain, and anemia. In accordance with the prescribing information, URTI symptoms were managed with inosine pranobex — a broad-spectrum antiviral drug active against RNA and DNA viruses. The administered therapy significantly improved the patient’s outcome, reducing the frequency of respiratory infections and their complications, likely due to its targeted action against herpes viruses.

Conclusion. The presented clinical case supports the view that when treating children with frequent and complicated upper respiratory tract infections, the potential effect of herpes viruses must be considered. Clarifying the diagnosis enables more appropriate therapeutic decisions and helps improve the child’s health.

Urethral duplication is a rare congenital malformation of the lower urinary tract, predominantly observed in male patients. The true level of incidence is unknown, with the respective publications remaining scarce and typically reporting isolated clinical observations. The variants of urethral duplication can be broadly classified into complete and incomplete forms. In complete duplication, both urethras exit separately from the bladder and open via their respective meatuses. Conversely, incomplete duplication features an accessory channel with only one opening, either at the distal end on the surface of the penis or in the proximal section, communicating with the main urethra. Incomplete urethral duplication is more common. The variability and frequency of clinical manifestations depend on the type of anomaly and the presence of complications. Verification of the duplication variant, particularly in the presence of a duplicated meatus, penile deformity, and a double stream of urine, is, as a rule, straightforward. Clinical variants associated with dysuric symptoms, recurrent urinary tract infections, urinary in- continence, or paraproctitis signs are significantly rarer and may pose challenges for timely diagnosis. Urethral duplications presenting with a paraurethral tract may remain asymptomatic for extended periods of time. Additional complexities arise from the lack of a versatile classification system, diagnostic algorithms, and surgical treatment strategies, which present serious challenges for pediatric surgeons and urologists dealing with this pathology. Most specialists typically rely on the classification of urethral duplication proposed by Effman (1976) and/or Williams — Kenawi and Mollard (1984). The Eff man classification is considered to be the most comprehensive and detailed. Therefore, in this article, we relied on this classification to describe clinical observations. Surgical treatment depends on the classification type and generally involves excision of the accessory urethra and reconstruction of the main urethra when needed. The treatment of IIA2-Y subtype presents the greatest challenges in terms of requiring perineal reconstruction, excision of the second urethra, and restoration of the main urethra anatomy. In this article, we present cases of IIA2-Y urethral duplication in boys.

An analysis of mucolytic drug use was conducted using data from national cystic fibrosis (CF) patient registries in Europe, the US, Canada, Australia, and Russia. Mucolytic therapy is a key component of CF treatment. Mucolytic drugs are used in patients of all ages. During the study period, dornase alfa was prescribed to the largest number of patients across all registries. In Russia, this drug is available to all patients, largely owing to the “14 High- Cost Nosologies” program and the presence of a dornase alfa biosimilar produced in Russia. According to registry data, dornase alfa was used more frequently in Russia than in other countries – up to 95.8% in 2019, with 25.9% of patients receiving a second dose intranasally (in 2023). In the US, dornase alfa was prescribed to up to 90% of patients, in Australia – up to 60%, in Canada – up to 52% of adult patients, and in the EU, more than 50% of patients received this drug. Among rapid-acting mucolytics, hypertonic saline inhalation was the most commonly prescribed, accounting for up to 77% of patients in the US, up to 72.7% in Russia, up to 52.3% in the EU, up to 45.4% in Australia, and up to 41.6% in Canada among adult CF patients. Mannitol inhalation was used in individual cases, primarily in adolescence (up to 15.7% of adolescents with CF in Australia in 2020). In recent years, a slight decrease in the use of mucolytic medications has been observed across all countries under study.

The article presents the main areas of activity the Department of Pediatric Surgery and Urology-Andrology named after L.P. Alexandrov at Sechenov University has been involved in from 2013 to 2025 (Head of the Department is Dr. Sci. (Med.), Prof. D.A. Morozov). It provides a detailed account of the staffing policy, educational process, material and technical resources of the department, as well as scientific research and organizational work, including dissertations, publications, presentations, and the organization of scientific events (congresses, conferences, forums), professional consensus, and legislative initiatives. Special attention is given to the description of the student scientific movement, including the student scientific club and the school of excellence. The article also addresses aspects of the department’s clinical work and the main directions of practical activities.