perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2023-68-1-39-38perinatology-1774Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESКлинико-генетические варианты первичной цилиарной дискинезии у детейClinical and genetic spectrum of primary ciliary dyskinesia in childrenhttps://orcid.org/0000-0001-9398-2215НовакА. А.NovakA. A.

Новак Андрей Александрович — мл. науч. сотр. отдела хронических воспалительных и аллергических болезней легких

127412 Москва, ул. Талдомская, д. 2

Moscow

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

Мизерницкий Юрий Леонидович — заслуженный работник здравоохранения РФ, д.м.н., проф., зав. отделом хронических воспалительных и аллергических болезней легких

127412 Москва, ул. Талдомская, д. 2

Moscow

ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияVeltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical UniversityRussian Federation2023010320236813946Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20232023Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1774

Первичная цилиарная дискинезия — редкая генетически детерминированная патология, приводящая к хроническому воспалительному поражению респираторного тракта, органов слуха и нарушению фертильной функции. В статье представлены предварительные результаты проводимого в клинике исследования, направленного на возможность прогнозирования клинического течения заболевания в зависимости от генетических вариантов заболевания. Это позволяет при своевременной диагностике персонализировать подход к лечению детей с таким инвалидизирующим заболеванием, как первичная цилиарная дискинезия.Цель исследования. Определение клинико-генетических вариантов первичной цилиарной дискинезии и выявление закономерностей развития заболевания.Материалы и методы. В исследование включены дети от 0 до 18 лет с дефектом цилиарного аппарата, верифицированным посредством анализа подвижности ресничек цилиарного эпителия слизистой оболочки дыхательных путей и прошедшим исследование экзома.Результаты. Выявлены характерные закономерности поражения органов мишеней, преобладающие в группе детей с нарушением фактора сборки цилии, а также в группе детей с поражением динеиновых ручек.Заключение. Проведение генетического обследования у детей с подозрением на первичную цилиарную дискинезию актуально с целью не только подтверждения заболевания, но и прогнозирования его течения.

Primary ciliary dyskinesia is a rare genetically determined pathology that leads to chronic inflammatory damage to the respiratory tract, hearing organs and impaired fertility. This article presents the preliminary results of a study conducted in the clinic aimed at the possibility of predicting the clinical course of the disease depending on the genetic variants of the disease, which enables, with timely diagnosis, personalizing the approach to the treatment of children with such a disabling disease as primary ciliary dyskinesia.Purpose. To determine the clinical and genetic variants of primary ciliary dyskinesia, and to identify patterns of disease development. Material and methods. The study included children from 0 to 18 years old with a verified defect of the ciliary apparatus, by analyzing the mobility of the cilia of the ciliary epithelium of the mucous membrane of the respiratory tract, and who underwent a next generation sequencing exome study.Results. The study revealed characteristic patterns of target organ damage, prevailing in a group of children with impaired cilia assembly factor, as well as in a group of children with damaged dynein arms.Conclusion. Thus, conducting a genetic examination in children with suspected primary ciliary dyskinesia is relevant not only to confirm the disease, but also to predict the course of the disease.

детипервичная цилиарная дискинезияклинико-генетические вариантысиндром Картагенераобратное расположение внутренних органовтугоухостьchildrenprimary ciliary dyskinesiaclinical genetic variantsKartagener’s syndromereverse position of internal organshearing lossИсследование выполнено в рамках Госзадания №200079056 «Разработка программного конвейера для специализированной биоинформатической обработки сложных регионов генома при анализе данных секвенирования NGS пациентов с редкими наследственными заболеваниями и оценка эффективности его применения» (рег.№ НИОКТР 121040600401-5).This study was carried out within the framework of State Assignment No. 200079056 “Development of a software pipeline for specialized bioinformatic processing of complex regions of the genome in the analysis of NGS sequencing data of patients with rare hereditary diseases and evaluation of the effectiveness of its application” (Reg. No. NIOKTR 121040600401-5).ReferencesHildebrandt F., Benzing T. Ciliopathies. 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The authors declare that there are no conflicts of interest present.