Purpose. To assess the reversibility of bronchial obstruction in patients with primary ciliary dyskinesia in groups with and without concomitant allergic inflammation, with the aim of a differentiated approach to inhalation therapy and the validity of prescribing bronchodilators.Material and methods. Retrospective analysis of the results of FEV1 before and after inhalation of a bronchodilator and study of the dependence of the reversibility of obstruction on the presence of atopy markers.Results. Of 100 patients, 63% (n=63) had atopy markers; 37% (n=37) did not have these markers (p≤0.05). When comparing the FEV1 indicator in children with the presence of allergic burden (n=63) and in the absence of it (n=37), it was found that in patients with markers of atopy, obstructive changes identified during spirometry were 14.2% more common ( p≤0.05). Reversibility of bronchial obstruction was recorded in 24% (n=24), of which 87.5% (n=21) of patients had markers of atopy (p≤0.05). In children with concomitant allergic burden and a decrease in FEV1, reversibility of obstruction was detected in 48.4% (n=15) of cases (p≤0.05). It was revealed that in patients with the presence of atopy markers and a decrease in FEV1≤80%, reversibility of obstruction occurs 42.8% more often compared to the group of patients with a normal level of FEV1 (p≤0.05).Conclusions. The vast majority of patients with primary ciliary dyskinesia (n=63) have markers of atopy, mainly due to an isolated increase in total IgE in the blood serum (p≤0.05). A decrease in FEV1≤80% in children with allergies was detected 14.2% more often compared to the group of children without it (p≤0.05). In the vast majority of patients with an allergic phenotype, reversibility of obstruction was observed after a test with a bronchodilator. Thus, all patients with primary ciliary dyskinesia and the presence of atopy markers are recommended to undergo a test with a bronchodilator, and if reversibility of obstruction is detected, it is advisable to add a bronchodilator drug to therapy.

Chronic mucocutaneous candidiasis is a complication occurring in patients with congenital immune disorders, characterized by recurrent infections of the skin, nails, and mucous membranes caused by C. albicans. The STAT1 gain of function (GOF) defect is a primary immunodeficiency condition resulting from heterozygous gain of function mutations in the STAT1 gene. STAT1 is a regulatory transcription factor and a key component of the JAK-STAT pathway mediating interferon-α/β/γ signaling. GOF mutations in the STAT1 gene lead to hyperphosphorylation of the protein of the same name and increased signaling along the JAK-STAT pathway, which also leads to impaired development of type 17 T helper cells (Th17). This disease most often debuts in childhood, and clinically, it is characterized by chronic mucocutaneous candidiasis, multiorgan autoimmune complications and an increased risk of infectious complications. The article describes the clinical observation of a girl with a rare variant of primary immunodeficiency STAT1 GOF.

Purpose. The purpose of the study is to show the importance of a multidisciplinary approach in the early verification of the primary immunodeficiency — Nijmegen breakage syndrome. A girl was admitted with complaints of daily productive cough, persistent obstruction of nasal breathing, mucopurulent discharge, recurrent respiratory tract infections for three years. From the age of 2, she suffered from protracted recurrent respiratory infections, repeatedly received inpatient treatment with systemic antibiotic therapy with insufficient effect in the form of maintaining complaints. When examining according to CT scan of the chest — single atelectasis, ground glass areas. Immunodeficiency states were excluded at the place of residence. On examination: phenotypic features of the type of «bird-like» face — sloping forehead, middle part of the face protruding forward, beak-shaped nose, large ears. Physical development is low: weight and height indicators are less than the 3rd percentile. From the nasal passages mucopurulent discharge, productive cough. Auscultatory — moist rales in all lung fields. For other organs and systems — without features. On examination: deep T-cell lymphopenia, according to CT scan signs of pansinusitis, bilateral otitis media; post-inflammatory pneumofibrotic changes. According to the results ofspirometry — mixed lesions. According to the results of immunological and genetic additional examination, the immunodeficiency state — Nijmegen breakage syndrome was verified, constant anti-inflammatory, antibacterial and antifungal, immunoglobulin replacement therapy was initiated.Conclusion. The presented clinical observation reflects the features of the course of the Nijmegen breakage syndrome. This example demonstrates the diagnostic complexity in verifying the diagnosis and shows the great importance of a multidisciplinary approach for the timely initiation of appropriate therapy, which, in turn, affects the severity of the disease and quality of life.

Heterotaxy syndrome is a congenital malformation in which the internal organs of the chest and abdominal cavity have an abnormal location. People suffering from this syndrome have multiple complex defects in the heart, blood vessels, spleen, liver, lungs and other organs. Heterotaxy is a rare pathology that requires a multidisciplinary approach to diagnosis. This article demonstrates a rare case of heterotaxy observed in the pulmonology clinic of the Veltischev Institute.

Down’ssyndrome is the most common chromosomal abnormality in live births. Due to the complete or partialtrisomy of chromosome 21the Down’s syndrome causes cognitive impairment, dysmorphic features and congenital mal formations. Pulmonary disease is the most common cause of death in patients with Down’s syndrome. The article highlights the pulmonological problems of the patients, and it also describes a clinical case of a child with Down’s syndrome with pulmonary pathology.

The results of the clinical approbation of Patient-specific therapy of bronchial asthma in children using the course method of applicationof the monoclonal antibodies (anti-IgE-therapy) by the Ministry of Health are summarized in order to assess the effect of this typeof treatment on the disease exacerbation rate, including those associated with the seasonal acute respiratory infections. The conclusion was made regarding the high clinical efficiency in relation to all parameters studied and safety of this type of the treatment. Itwas determined that the monitoring of the level of specific IgE receptors on basophils using the cytoflowmetry method, which is concomitant to anti-IgE therapy, makes it possible to predict the efficiency and individual duration of anti-IgE therapy for uncontrolledatopic bronchial asthma in children.

The article considersthe etiological factors, clinical manifestations and diagnostic signs of the alveolar hemorrhagic syndrome, which is rare in the pediatric clinical practice, using the example of the group of the patients with orphan lung pathological condition observed in the Pulmonology Clinic of the Institute. The prevailing number of the patients consists of the children with the rare disease; that is the idiopathic pulmonary hemosiderosis. That is why the clinical manifestations of the alveolar hemorrhagic syndrome in the presence of this pathological condition are discussed, the algorithm of the diagnostic measures and the long-term observation results (including the disease outcomes) for the children received the different variants of the immunosuppressive therapy are presented.

Primary ciliary dyskinesia is a rare genetically determined pathology leading to the development of chronic inflammatory lesions of the respiratory system in children, impaired fertile function in older patients. The disease is characterized by an autosomal recessive mode of inheritance with marked genetic heterogeneity. The article describes clinical observation of a patient – carrier of a rare mutation and describes the features of this case.Conflict of interest: The authors of this article confirmed the lack of conflict of interest and financial support, which should be reported.

The article considersthe etiological factors, clinical manifestations and diagnostic signs of the alveolar hemorrhagic syndrome, which is rare in the pediatric clinical practice, using the example of the group of the patients with orphan lung pathological condition observed in the Pulmonology Clinic of the Institute. The prevailing number of the patients consists of the children with the rare disease; that is the idiopathic pulmonary hemosiderosis. That is why the clinical manifestations of the alveolar hemorrhagic syndrome in the presence of this pathological condition are discussed, the algorithm of the diagnostic measures and the long-term observation results (including the disease outcomes) for the children received the different variants of the immunosuppressive therapy are presented.

Among the causes of asthma-like diseases there is a rare congenital vascular pathology - vascular tracheal ring clinically manifested by heavy breathing (sometimes - associated with dysphagia). The reported clinical observation of a fifteen-year-old patient with vascular tracheal ring permits to accentuate attention of physicians, pediatricians, pulmonologists on peculiarity of diagnosis and optimal low-invasive surgery of such patients.