pulmoПульмонологияPULMONOLOGIYA0869-01892541-9617Scientific and Practical Journal “PULMONOLOGIYA” LLC10.18093/0869-0189-2023-33-4-575-579pulmo-4250Research ArticleКРАТКИЕ СООБЩЕНИЯBRIEF REPORTSВрожденный центральный гиповентиляционный синдром (синдром Ундины)Congenital central hypoventilation syndrome (Ondine’s curse)https://orcid.org/0000-0002-0740-1718МизерницкийЮ. Л.MizernitskiyY. L.

Мизерницкий Юрий Леонидович – доктор медицинских наук, профессор, заведующий отделением хронических воспалительных и аллергических болезней легких.

125412, Москва, ул. Талдомская, 2

тел: (499) 487-90-20

Yury L. Mizernitskiy - Doctor of Medicine, Professor, Head of the Department of Chronic Inflammatory and Allergic Lung Diseases, Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov Medical University), Healthcare Ministry of Russia; Honored Worker of Healthcare of the Russian Federation.

Taldomskaya ul. 2, Moscow, 125412

tel.: (499) 487-90-20

yulmiz@mail.ruОбособленное структурное подразделение «Научно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е. Вельтищева» Федерального государственного автономного образовательного учреждения высшего образования «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Министерства здравоохранения Российской ФедерацииРоссияVeltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov Medical University), Healthcare Ministry of RussiaRussian Federation202323052023334575579Copyright © Мизерницкий Ю.Л., 20232023Мизерницкий Ю.Л.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://journal.pulmonology.ru/pulm/article/view/4250

Врачам-педиатрам, неонатологам нередко приходится сталкиваться с разнообразными причинами нарушения дыхания. Большинство алгоритмов диагностики и лечения таких состояний достаточно разработаны. Тем не менее диагностика некоторых редких причин дыхательных нарушений до сих пор проблематична. Целью работы явился обзор современных данных литературы об очень редком аутосомно-доминантном заболевании – врожденном центральном гиповентиляционном синдроме (синдром Ундины), который проявляется отсутствием самостоятельного дыхания вследствие врожденного генетического дефекта – экспансии полиаланинового тракта в гене РНОХ2В хромосомы 4р12. Заключение. Обсуждаются вопросы патогенеза, диагностики, клинические варианты, лечение и прогноз этого заболевания.

Pediatricians and neonatologists often deal with a variety of causes of respiratory failure. Most algorithms for the diagnosis and treatment of such conditions are well developed. However, the diagnosis of some rare causes of respiratory disorders is still challenging. The aim of this review is to present current literature data on a very rare autosomal dominant disorder – congenital central hypoventilation syndrome (Ondine’s curse). This syndrome is manifested by the absence of spontaneous breathing due to a congenital genetic defect, namely the expansion of the polyalanine tract in the PHOX2B gene on chromosome 4p12. Conclusion. Issues of pathogenesis, diagnosis, clinical variants, treatment, and prognosis of this disease are discussed.

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