Синдром ювенильного полипоза (обзор литературы)
https://doi.org/10.33878/2073-7556-2024-23-1-142-151
Аннотация
Обзор литературы посвящен описанию синдрома ювенильного полипоза (СЮП), крайне редкого заболевания с аутосомно-доминантным типом наследования, которое характеризуется наличием множественных полипов в различных отделах желудочно-кишечного тракта, преимущественно в толстой кишке. Выявление аденоматозных полипов у пациентов с СЮП помимо ювенильных значительно затрудняет диагностику заболевания, в том числе проведение дифференциального диагноза с семейным аденоматозом, при котором необходимо выполнять радикальный объем хирургического вмешательства — колпроктэктомию.
Только у 40–60% пациентов удается идентифицировать патогенные варианты генов SMAD4 и BMPR1A, для каждого из которых характерны свои клинические проявления.
К вариантам лечения пациентов с СЮП относят эндоскопическое и хирургическое, однако алгоритм принятия решений, а также сроки послеоперационного наблюдения не отражены в российских клинических рекомендациях.
Редкая встречаемость данного синдрома, трудности в эндоскопической диагностике и морфологической верификации, а также ограничения в определении молекулярно-генетической причины заболевания демонстрируют необходимость проведения дальнейших исследований.
Об авторах
Т. А. Власко
ФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава России
Россия
Россия
ул. Саляма Адиля, д. 2, г. Москва, 123423
А. А. Ликутов
ФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава России; ФГБОУ ДПО РМАНПО Минздрава России
Россия
Россия
ул. Саляма Адиля, д. 2, г. Москва, 123423
ул. Баррикадная, д. 2/1, стр. 1, г. Москва, 125993
В. В. Веселов
ФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава России; ФГБОУ ДПО РМАНПО Минздрава России
Россия
Россия
ул. Саляма Адиля, д. 2, г. Москва, 123423
ул. Баррикадная, д. 2/1, стр. 1, г. Москва, 125993
А. А. Пономаренко
ФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава России
Россия
Россия
ул. Саляма Адиля, д. 2, г. Москва, 123423
А. С. Цуканов
ФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава России
Россия
Россия
ул. Саляма Адиля, д. 2, г. Москва, 123423
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Рецензия
Для цитирования:
Власко Т.А., Ликутов А.А., Веселов В.В., Пономаренко А.А., Цуканов А.С. Синдром ювенильного полипоза (обзор литературы). Колопроктология. 2024;23(1):142-151. https://doi.org/10.33878/2073-7556-2024-23-1-142-151
For citation:
Vlasko T.A., Likutov A.A., Veselov V.V., Ponomarenko A.A., Tsukanov A.S. Juvenile polyposis syndrome (review). Koloproktologia. 2024;23(1):142-151. https://doi.org/10.33878/2073-7556-2024-23-1-142-151
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