persmedРоссийский журнал персонализированной медициныRussian Journal for Personalized Medicine2782-38062782-3814ФОНД АЛМАЗОВА10.18705/2782-3806-2023-3-2-57-67persmed-147Research ArticleПЕДИАТРИЯPAEDIATRICSСиндром врожденной центральной гиповентиляции. Опыт НМИЦ им. В. А. АлмазоваСongenital central hypoventilation syndrome. Experience Almazov National Medical Research CentreПетроваН. А.PetrovaN. A.

Петрова Наталья Александровна - кандидат медицинских наук, заведующий научно-исследовательской лабораторией физиологии и патологии новорожденных Института перинатологии и педиатрии.

Ул. Аккуратова, д. 2, Санкт-Петербург, 197341.

Petrova Natalia A. - MD, PhD, Head of the Research Laboratory of Physiology and Deseases of Newborns, Institute of Perinatology and Pediatrics.

Akkuratova str., 2, Saint Petersburg, 197341

natalja5@yandex.ruБрызжинА. В.BryzzhinA. V.

Брызжин Александр Владимирович - заведующий отделением анестезиологии и реанимации для детей Клиники материнства и детства Университетской клиники.

Санкт-Петербург

Bryzzhin Alexander V. - MD, Head of the Department of Anesthesiology and Intensive Care for Children, Clinic of Motherhood and Childhood, University Clinic.

St. Petersburg

ФофановаД. П.FofanovaD. P.

Фофанова Дарья Павловна - ученица 10 класса ГБОУ лицей № 64 Приморского района.

Санкт-Петербург

Fofanova Daria P. - student of the 10th grade, Lyceum No. 64 of the Primorsky district of St. Petersburg.

St. Petersburg

КолбинаН. Ю.KolbinaN. Yu.

Колбина Наталья Юрьевна - заведующий отделением педиатрии и медицинской реабилитации для детей № 1 Клиники материнства и детства Университетской клиники.

Санкт-Петербург

Kolbina Natalya Yu. - MD, Head of the Department of Pediatrics and Rehabilitation for Children No. 1 of the Clinic for Motherhood and Childhood, University Health Clinic.

St. Petersburg

ПервунинаТ. М.PervuninaT. M.

Первунина Татьяна Михайловна - доктор медицинских наук, директор Института перинатологии и педиатрии.

Санкт-Петербург

Pervunina Tatyana M. - MD, Doctor of Medical Sciences, Director of the Institute of Perinatology and Pediatric Medicine.

St. Petersburg

АртамоноваИ. Н.ArtamonovaI. N.

Артамонова Ирина Никитична – младший научный сотрудник НИЛ физиологии и патологии новорожденных.

Санкт-Петербург

Artamonova Irina N. - junior researcher, Neonatal research laboratory.

St. Petersburg

БородинА. В.BorodinA. V.

Бородин Александр Вячеславович - младший научный сотрудник НИО неизвестных, редких и генетически обусловленных заболеваний НЦМУ «Центр персонализированной медицины».

Санкт-Петербург

Borodin Alexander V. - junior researcher, scientific laboratory for unknown, rare and genetically determined diseases.

St. Petersburg

Федеральное государственное бюджетное учреждение «Национальный медицинский исследовательский центр имени В. А. Алмазова» Министерства здравоохранения Российской Федерации, Научный центр мирового уровня «Центр персонализированной медицины»РоссияAlmazov National Medical Research Centre, World-Class Research Centre for Personalized MedicineRussian FederationГосударственное бюджетное общеобразовательное учреждение лицей № 64 Приморского района Санкт-ПетербургаРоссияState budgetary educational institution Lyceum No. 64 of the Primorsky district of Saint PetersburgRussian Federation202320052023325767Copyright © Петрова Н.А., Брызжин А.В., Фофанова Д.П., Колбина Н.Ю., Первунина Т.М., Артамонова И.Н., Бородин А.В., 20232023Петрова Н.А., Брызжин А.В., Фофанова Д.П., Колбина Н.Ю., Первунина Т.М., Артамонова И.Н., Бородин А.В.Petrova N.A., Bryzzhin A.V., Fofanova D.P., Kolbina N.Y., Pervunina T.M., Artamonova I.N., Borodin A.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://persmed.elpub.ru/jour/article/view/147

В статье приведен краткий обзор этиопатогенетических аспектов синдрома врожденной центральной гиповентиляции с акцентом на генотип-фенотипические корелляции, освещены подходы к респираторной поддержке. На основании данных локального регистра суммирован опыт ФГБУ «НМИЦ им. В. А. Алмазова» Минздрава России, где реализован систематический мультидисциплинарный подход к лечению и реабилитации детей с синдромом врожденной центральной гиповентиляции, что позволяет получить максимально благоприятные результаты по сохранению неврологического и интеллектуального потенциала и качества жизни.

The article provides a brief review of the etiopathogenetic aspects of congenital central hypoventilation syndrome with an emphasis on genotype-phenotypic correlations, and highlights approaches to ventilatory support. Based on the data of the local register, the experience of Almazov National Medical Research Centre is summarised. A systematic multidisciplinary approach to the treatment and rehabilitation of children with congenital central hypoventilation syndrome that has been implemented provides the most favorable results in preserving neurological and intellectual potential and quality of life.

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