Прогероидный синдром Коккейна
https://doi.org/10.15690/vsp.v23i3.2767
Аннотация
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.
Ключевые слова
При поддержке: Отсутствует
Об авторах
А. Л. Кунгурцева
Первый МГМУ им. И.М. Сеченова (Сеченовский университет)
Россия
Раскрытие интересов:
Россия
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
Раскрытие интересов:
Авторы статьи подтвердили отсутствие конфликта интересов, о котором необходимо сообщить
А. В. Витебская
Первый МГМУ им. И.М. Сеченова (Сеченовский университет)
Россия
Раскрытие интересов:
Россия
Москва
Раскрытие интересов:
Авторы статьи подтвердили отсутствие конфликта интересов, о котором необходимо сообщить
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Рецензия
Для цитирования:
Кунгурцева А.Л., Витебская А.В. Прогероидный синдром Коккейна. Вопросы современной педиатрии. 2024;23(3):124-130. https://doi.org/10.15690/vsp.v23i3.2767
For citation:
Kungurtseva A.L., Vitebskaya A.V. Progeroid Cockayne Syndrome. Current Pediatrics. 2024;23(3):124-130. (In Russ.) https://doi.org/10.15690/vsp.v23i3.2767
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