medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/2079-701X-2021-1-276-285medsovet-6059Research ArticleТРУДНЫЙ ДИАГНОЗDIFFICULT DIAGNOSISПервичная цилиарная дискинезия: состояние проблемы и перспективыPrimary ciliary dyskinesia: state of the problem and prospectshttps://orcid.org/0000-0001-9398-2215НовакА. А.NovakAndrey A.

  Новак Андрей Александрович, младший научный сотрудник отделения хронических воспалительных и аллергических болезней легких

127412, Москва, ул. Талдомская, д. 2

 Andrey A. Novak, Junior Research Fellow of the Department of Lung Diseases

2, Taldomskaya St., Moscow, 127412

drnovakaa@yandex.ruhttps://orcid.org/0000-0002-0740-1718МизерницкийЮ. Л.MizernitskiyYuriy L.

 Мизерницкий Юрий Леонидович, д.м.н., профессор, заслуженный работник здравоохранения Российской Федерации, заведующий отделением хронических воспалительных и аллергических болезней легких

127412,  Москва, ул. Талдомская, д. 2

  Yuriy L. Mizernitskiy, Dr. of Sci. (Med.), Professor, Head of the Department of Lung Diseases

2, Taldomskaya St., Moscow, 127412

yulmiz@mail.ruНаучно-исследовательский клинический институт педиатрии им. академика Ю.Е. ВельтищеваРоссияVeltischev Research and Clinical Institute for PediatricsRussian Federation20212103202101276285Copyright © Новак А.А., Мизерницкий Ю.Л., 20212021Новак А.А., Мизерницкий Ю.Л.Novak A.A., Mizernitskiy Y.L.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-sovet.pro/jour/article/view/6059

В обзорной статье дается современное представление о первичной цилиарной дискинезии (синдроме «неподвижных ресничек») и ее частном варианте – синдроме Картагенера – генетически детерминированной патологии, приводящей к хроническому воспалительному поражению респираторного тракта, органов слуха и нарушению фертильной функции. Данное орфанное заболевание мало известно широкому кругу врачей. Первичная цилиарная дискинезия – редкое наследственное заболевание из группы цилиопатий, в основе которого лежит генетически детерминированный дефект ультраструктуры ресничек эпителия респираторного тракта и аналогичных им структур, приводящий к нарушению их двигательной функции. Для верификации диагноза предложены различные пошаговые алгоритмы, обязательными компонентами которых являются оценка двигательной способности ресничек мерцательного эпителия, уровня назального оксида азота (nNO), электронно-микроскопическое исследование биоптата слизистой оболочки бронхов, генетическое обследование. Золотого стандарта диагностики первичной цилиарной дискинезии не существует. Диагностический поиск у пациентов должен быть комплексным и состоять из определенных этапов. В настоящее время терапевтические стратегии первичной цилиарной дискинезии основаны на утвержденных клинических рекомендациях. Во многих странах за основу терапии пациентов с первичной цилиарной дискинезией взяты протоколы лечения пациентов с муковисцидозом, несмотря на очевидные различия этих заболеваний. Главной задачей терапии является адекватный клиренс дыхательных путей, контроль и профилактика инфекционных заболеваний, а также устранение потенциального воздействия на дыхательные пути различных видов поллютантов, включая табачный дым. В статье описана клиника, характерные симптомы заболевания, его распространенность и генетические аспекты, обсуждаются проблемы диагностики, лечения, прогноза и наблюдения этих детей, а также необходимость национального регистра больных с данной патологией.

This review article provides an up-to-date understanding of primary ciliary dyskinesia (immotile-cilia syndrome) and its particular variant, Cartagener syndrome, a genetically determined pathology leading to chronic inflammatory lesions of the respiratory tract, hearing organs, and impaired fertile function. This orphan disease is not well known to the general medical community. Primary ciliary dyskinesia is a rare hereditary disease of the group of ciliopathies that is based on a genetically determined defect in the ultrastructure of the cilia of the respiratory tract epithelium and similar structures, leading to impaired motor function. Various step-by-step algorithms have been proposed to verify the diagnosis, the obligatory components of which are assessment of the motor ability of the cilia of the atopic epithelium, nasal nitric oxide (nNO) level, electron microscopic examination of a bronchial mucosal biopsy specimen, and genetic examination. There is no gold standard for diagnosis of primary ciliary dyskinesia. Diagnostic search in patients should be complex and consist of certain stages. Currently, therapeutic strategies for primary ciliary dyskinesia are based on approved clinical guidelines. In many countries, the therapy of patients with primary ciliary dyskinesia is based on treatment protocols for patients with cystic fibrosis, despite the obvious differences in these diseases. The main goal of therapy is adequate airway clearance, control and prevention of infectious diseases, and elimination of potential airway exposure to various types of pollutants, including tobacco smoke. The article describes the clinic, characteristic symptoms of the disease, its prevalence and genetic aspects, discusses the problems of diagnosis, treatment, prognosis and monitoring of these children, as well as the need for a national register of patients with this pathology.

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The authors declare that there are no conflicts of interest present.