vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v23i3.2767vsp-3515Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWПрогероидный синдром КоккейнаProgeroid Cockayne Syndromehttps://orcid.org/0000-0001-7363-3093КунгурцеваА. Л.KungurtsevaAnastasiya L.

Кунгурцева Анастасия Леонидовна - аспирант кафедры детских болезней Клинического института детского здоровья им. Н.Ф. Филатова

119991, Москва, ул. Трубецкая, д. 8, стр. 2, тел.: +7 (499) 248-64-79

Moscow

kungurtseva.al@mail.ruhttps://orcid.org/0000-0001-5689-0194ВитебскаяА. В.VitebskayaAlisa V.

Москва

Moscow

Первый МГМУ им. И.М. Сеченова (Сеченовский университет)РоссияSechenov First Moscow State Medical UniversityRussian Federation202410072024233124130Copyright © Кунгурцева А.Л., Витебская А.В., 20242024Кунгурцева А.Л., Витебская А.В.Kungurtseva A.L., Vitebskaya 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://vsp.spr-journal.ru/jour/article/view/3515

Синдром Коккейна — редкое генетическое заболевание из группы синдромов преждевременного старения, связанное с нарушением репарации ДНК. Синдром характеризуется аутосомно-рецессивным типом наследования и вызван патогенными вариантами генов ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2) и XPG (ERCC5). Распространенность составляет 1 случай на 2,5 млн населения. Клиническая картина проявляется нарушением работы нервной и сердечно-сосудистой систем, опорно-двигательного аппарата, тяжелой задержкой роста и дефицитом массы тела. Средняя продолжительность жизни пациентов варьирует от 5 до 30 лет и зависит от типа и тяжести заболевания. Патогенетическое лечение не разработано. В статье представлены результаты последних исследований по вопросам диагностики и лечения заболевания.

Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The syndrome is autosomal recessive, and it is caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), and XPG (ERCC5) genes. Its prevalence is 1 case per 2.5 million people. The clinical signs include nervous, cardiovascular and musculoskeletal systems impairments, severe growth retardation, and body weight deficiency. The average life expectancy of these patients varies from 5 to 30 years and depends on the disease type and severity. There is no pathogenetic treatment. This article presents the results of the latest research on the disease diagnosis and management.

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