Background. A modern achievement in the treatment of cystic fibrosis has been the discovery of small molecules that restore the processes of synthesis, transport to the membrane, and the work of the defective CFTR protein. Drugs whose action is aimed at restoring the function of the CFTR protein are called CFTR modulators. The aim of the study is the conduction of a comprehensive assessment of the effectiveness of CFTR modulator ivacaftor/lumacaftor therapy in children with cystic fibrosis based on the study of clinical, laboratory, and instrumental data. Methods. CFTR modulator ivacaftor/lumacaftor was received for 12 months by 23 children of the main group aged 2–17 years, who are homozygous carriers of the F508del mutation of the CFTR gene in the absence of the L467F complex allele. A control examination of the main group was conducted at the start of the study and then every 3 months for 12 months of drug administration. Results. The condition of the patients in the observation groups at the start of the study was assessed as moderate to severe, the bronchopulmonary process was in the stage of incomplete clinical remission. In the main group, the level of aspartate aminotransferase significantly decreased, in the control, on the contrary, there was a tendency for this indicator to increase. The level of alkaline phosphatase (alkaline phosphatase) decreased and reached normal in the main group; the relative risk of hyperphosphatasemia during treatment decreased by 5 times (0.187 (0.063–0.557)). The level of gamma-glutamyltranspeptidase (gamma-GTP) and the number of patients with elevated GGTP decreased (24.65 and 19.69 IU/l, respectively; 61 and 13%). In the control group, the level of gamma-GTP increased and the alkaline phosphatase did not normalize. The indicators of forced exhalation volume in the first second and forced vital capacity of the lungs were initially lower in the main group, after 12 months the differences remained. There was a tendency to decrease the frequency of severe pancreatic insufficiency in the main group by 17.3%, and no changes in the control group. Sweat chlorides tended to decrease in the main group in the absence of reaching the standard values. Conclusion. The usage of the CFTR modulator ivacaftor/lumacaftor showed a greater clinical effect in improving the functioning of the digestive organs: a decrease in the risk of hyperphosphatasemia and a significant decrease in the number of patients with high levels of gamma-GTP were established, a stable level of liver enzyme activity was noted, and a tendency to increase the activity of pancreatic elastase was revealed. The tendency to decrease the indicators of sweat chlorides is shown. There were no changes in the indicators of respiratory function.

The article presents modern approaches to the diagnosis and therapy of patients with allergic rhinitis. The document was developed by the professional association of pediatric specialists — the Union of Pediatricians of Russia — together with leading specialists of the Russian Association of Allergologists and Clinical Immunologists, the National Medical Association of Otorhinolaryngologists and is regularly updated taking into account the latest data on the effectiveness and safety of various medical interventions. The article provides information about the epidemiology of allergic rhinitis, provides characteristic diagnostic signs of the disease, allowing for establishment as timely as possible of a correct diagnosis and, taking into account a personalized approach, prescribe effective therapy.

Swyer syndrome is a rare genetic disorder in which gonadal dysgenesis and karyotype 46, XY are observed. In the postnatal and prepubescent period, this disease has no clinical manifestations and is asymptomatic, which makes diagnosis difficult. The first signs of the syndrome appear in puberty in the form of underdevelopment of secondary sexual characteristics. This review presents the criteria based on which such a diagnosis as Swyer syndrome can be made. The main diagnostic methods are highlighted, the possibilities of both surgical treatment of patients and drug treatment due to hormone replacement therapy are considered. Verification of the syndrome contributes to a more thorough examination, which will allow you to determine management tactics and avoid complications from other organs and systems.

Background. Due to the rarity of the combination of emergence diabetes mellitus type 1 (DM1), COVID-19, and multisystem inflammatory syndrome, each reported case represents valuable experience and increases the awareness of medical professionals. Clinical case description. A 7-year-old boy was admitted to the intensive care unit with a diagnosis of diabetes mellitus type 1, first identified. On day 2, ketoacidotic coma with a hyperosmolar component developed, a positive polymerase chain reaction (PCR) test for SARS-CoV-2 was obtained, and a picture of subarachnoid hemorrhage was described according to CT scans of the brain. On day 3, macrohematuria, peripheral edema, pasty complexion were noted; the clinical picture and laboratory examination data corresponded to a “cytokine storm” with the development of multiple organ failure. On day 5, tonic-clonic seizures and bloody discharge from the nasopharynx were noted. On day 6, a negative PCR test for SARS-CoV-2 was obtained, on chest X-rays there was a heterogeneous decrease in pneumatization in the basal sections on both sides, and bilateral hydrothorax. On day 9, meningeal symptoms were noted. On day 14, a repeated episode of a convulsive attack was registered, and changes in the brain according to MRI results were regarded as an inflammatory demyelinating lesion against the background of the course of multisystem inflammatory syndrome and DM or as posterior reversible encephalopathy (PRES syndrome). Against the background of the appointment of immunomodulatory, anticoagulant, antibacterial, antiviral therapy, positive dynamics was noted in the child's condition. On day 18, the patient in a stable condition of moderate severity was transferred to the Department of Pediatric Endocrinology for further treatment. After 14 days, the child was discharged from the hospital in a satisfactory condition. Conclusion. This case report may confirm the risk of developing multisystem inflammatory syndrome in children with DM1 and COVID-19, which requires an interdisciplinary approach and the appointment of therapy included in the standards of management of children with multisystem inflammatory syndrome.

Background. Atopic dermatitis (AD) is one of the most common chronic inflammatory skin diseases in children. It manifests during the first year of life in majority of cases. Early AD manifestation is a risk factor for the development of other atopic spectrum diseases in the future. Nowadays, the ability of the dupilumab, as a genetically engineered biologic drug (GEBD), to modify the disease course, to reduce the frequency of AD persistence and the possibility of multimorbid atopic phenotype development is widely discussed. Thus, dupilumab management in young children with early onset and severe course arouses specific interest. Clinical case description. This article demonstrates the experience of effective administration of GEBD dupilumab in 4-year old patient with severe AD and comorbid food allergies. Continuous therapy for 12 weeks allowed to recover disease’s skin manifestations. No adverse events were reported. Conclusion. Long-term continuous dupilumab administration in children aged from 6 months to 5 years has proven its efficacy and acceptable safety profile. The potential disease-modifying effect of dupilumab is especially significant for young and preschool children due to the high risk atopic multimorbidity developing during this period.

The purpose of this review is to present modern data on the correlations between viruses and celiac disease. Some viruses probably have crucial role in celiac disease pathogenesis according to the results of recent studies. However, the virus exposure itself does not lead to the development of autoimmune disease. Number of studies have demonstrated that there are several viruses that can cause celiac disease, and several activation pathways leading to food tolerance loss. Thus far, the role of some reoviruses strains has been proven in the development of celiac disease. Further research is needed for better understanding of the viruses role in the celiac disease development and to improve management and prevention of this disease.

The review describes the state of the vitamin D system and bone metabolism in celiac disease, the mechanisms of the influence of vitamin D on the state of the intestinal mucosa, and risk factors that contribute to pathological changes in bones in celiac disease. Studies are presented that evaluate bone mineral density, bone metabolism, and vitamin D status in patients with celiac disease. The results of a discussion on the effect of calcium and vitamin D supplements on the course of celiac disease and the condition of bone tissue in this disease are presented.