Primary ciliary dyskinesia (PCD) is a rare hereditary disease from the group of ciliopathies, which is based on a defect in the cilia ultrastructure of the respiratory epithelium and similar structures (sperm flagella, villi of the fallopian tubes, ventricular ependyma, etc.), leading to motor function impairment. The prevalence of the disease varies significantly around the world and is not known reliably in the Russian Federation.The aim of the review was to analyze literature data on modern approaches to the diagnosis and treatment of PCD.Methodology. The data of 90 articles and the opinions of experts providing care to patients with PCD were used.Results. The classic manifestations of PCD depend on age. The leading manifestations of the disease in patients with PCD are recurrent inflammatory diseases of the upper and lower respiratory tract (bronchitis, pneumonia), with the formation of bronchiectasis, damage to the ENT organs (chronic rhinitis, rhinosinusitis, nasal polyposis, repeated otitis media, progressive hearing loss). Currently, there is no single method which could serve as a “gold” standard for diagnosing PCD. The diagnosis of PCD is based on the characteristic clinical picture in combination with the results of special tests (nitric oxide in exhaled air, DNA diagnostics, high-speed video microscopy, transmission electron microscopy). The genetic diagnostics has not been developed sufficiently in the global practice yet and is unavailable in our country. The approach to the treatment of a patient with PCD should be multidisciplinary due to multiple organ lesions. According to the European consensus, the goal of PCD therapy is to restore or maintain normal lung function. There have been no randomized trials of treatment for PCD, and therefore all treatment recommendations are based on very low-level evidence or extrapolated from cystic fibrosis guidelines. Recommendations on mucolytic, antibacterial and anti-inflammatory therapy of PCD are given with consideration for the international and domestic experience.Conclusion. The development of a new version of clinical guidelines containing up-to-date relevant information will improve the diagnosis and treatment of PCD in the Russian Federation.

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Primary Ciliary Dyskinesia is an orphane disease from the group of ciliopathies based on genetically determined defect in the structure of the motor cilia of the epithelium of the respiratory system and similar structures. Pathology belongs to the group of autosomal recessive phenotypes with pronounced genetic heterogeneity. It is clinically characterized by a progressive inflammatory lesion of all parts of the respiratory tract in children, a decrease in fertile function in older patients; defects of lateralization and malformations of organs are often observed. Despite a vivid clinical picture, the disease is not always timely diagnosed, which leads to a rapid decrease in pulmonary function, often to unnecessary surgical interventions. The purpose of this article is to familiarize a wide range of pediatricians and pulmonologists with modern methods of diagnostics and therapy of primary ciliary dyskinesia.

Aim. Selection and combination of immunodiagnostic tests to detect active tuberculosis (TB) in children with concomitant bronchopulmonary pathologies.Materials and methods. A prospective study of children and adolescents (n = 236) was conducted, which included cases with localized pulmonary tuberculosis; pulmonary tuberculosis associated with allergic or infectious and inflammatory forms of chronic nonspecific lung diseases (CNSLD); chronic nonspecific lung diseases under a significant absence of active TB but the presence of Mycobacterium tuberculosis. All patients underwent immunodiagnostic tests by Mantoux test, recombinant tuberculosis allergen (RTA) test, and QuantiFERON – GIT.Results. Mantoux and RTA tests were found to exhibit high sensitivity in children both with tuberculosis associated with concomitant pathologies and without such pathologies. Differences were observed in the results obtained by the Mantoux test in children with tuberculosis-associated bronchopulmonary pathology and those with localized tuberculosis. The Mantoux test may be positive as a result of many factors, other than active TB infection. Thus, children with allergic and infectious-inflammatory pathologies of the lungs exhibit an altered sensitivity to the Mantoux test. Such cases require in vitro diagnostics with the Quanti- FERON test, whose sensitivity is high despite the presence of CNSLD.Conclusions. Children with infectious-inflammatory CNSLD should undergo TB examination in stages based on in vivo and in vitro tests, when necessary. Children with allergic CNSLD should undergo in vitro tests at the first stage.