gnckКолопроктологияKoloproktologia2073-75562686-7303Russian Association of Coloproctology10.33878/2073-7556-2024-23-1-142-151gnck-1884Research ArticleОБЗОРЫ ЛИТЕРАТУРЫ И МЕТААНАЛИЗLITERATURE REVIEWS AND METAANALYSISСиндром ювенильного полипоза (обзор литературы)Juvenile polyposis syndrome (review)https://orcid.org/0000-0003-4533-6555ВласкоТ. А.VlaskoTatyana A.

ул. Саляма Адиля, д. 2, г. Москва, 123423

Salyama Adilya st., 2, Moscow, 123423

polikarpova-e@yandex.ruhttps://orcid.org/0000-0001-5848-4050ЛикутовА. А.LikutovA. A.

ул. Саляма Адиля, д. 2, г. Москва, 123423

ул. Баррикадная, д. 2/1, стр. 1, г. Москва, 125993

Salyama Adilya st., 2, Moscow, 123423

Barrikadnaya st., 2/1, Moscow, 125993

https://orcid.org/0000-0001-9992-119XВеселовВ. В.VeselovV. V.

ул. Саляма Адиля, д. 2, г. Москва, 123423

ул. Баррикадная, д. 2/1, стр. 1, г. Москва, 125993

Salyama Adilya st., 2, Moscow, 123423

Barrikadnaya st., 2/1, Moscow, 125993

https://orcid.org/0000-0001-7203-1859ПономаренкоА. А.PonomarenkoA. A.

ул. Саляма Адиля, д. 2, г. Москва, 123423

Salyama Adilya st., 2, Moscow, 123423

https://orcid.org/0000-0001-8571-7462ЦукановА. С.TsukanovA. S.

ул. Саляма Адиля, д. 2, г. Москва, 123423

Salyama Adilya st., 2, Moscow, 123423

ФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава РоссииРоссияRyzhikh National Medical Research Center of ColoproctologyRussian FederationФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава России; ФГБОУ ДПО РМАНПО Минздрава РоссииРоссияRyzhikh National Medical Research Center of Coloproctology; Russian Medical Academy of Continuous Professional EducationRussian Federation202421032024231142151Copyright © Власко Т.А., Ликутов А.А., Веселов В.В., Пономаренко А.А., Цуканов А.С., 20242024Власко Т.А., Ликутов А.А., Веселов В.В., Пономаренко А.А., Цуканов А.С.Vlasko T.A., Likutov A.A., Veselov V.V., Ponomarenko A.A., Tsukanov A.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.ruproctology.com/jour/article/view/1884

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.

Juvenile polyposis syndrome (JPS), a rare disease with an autosomal dominant mode of inheritance, which is characterized with the presence of multiple polyps in various parts of the gastrointestinal tract, mainly in the colon. The detection of adenomatous polyps in patients with JPS, in addition to juvenile ones, significantly complicates the differential diagnosis with familial adenomatous polyposis, in which it is necessary to perform a radical surgery — proctocolectomy. Only in 40-60% of cases, pathogenic variants of the SMAD4 and BMPR1A genes can be identified, each of which is characterized with its own clinical manifestations. Treatment options for patients with JPS include endoscopic and surgical; however, the decision-making algorithm, as well as the timing of postoperative follow-up, are not evaluated in Russian clinical guidelines. The rare occurrence of this syndrome, difficulties in endoscopic diagnosis and morphological verification, as well as limitations in determining the molecular genetics cause of the disease demonstrate the need for further research.

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