ДИФФУЗНЫЙ СЕМЕЙНЫЙ ПОЛИПОЗ У ДЕТЕЙ: ОБЗОР ЛИТЕРАТУРЫ
Введение Диффузный семейный полипоз (ДСП) аутосомды-доминантное наследственное редкое генетическое заболевание, которое при несвоевременной диагностике и лечении приводит к развитию колоректальной карциномы.
Цель исследования провести обзор литературы по этиопатогенезу, диагностике, лечению и осложнений диффузного семейного полипоза у детей.
Стратегия поиска. Поиск литературы проводился в базах данных Web of Science,PubMed, e-Library, на двух языках (русский и английский) по ключевым словам «семейный диффузный полипоз», «семейный аденоматозный полипоз» глубина исследований 10 лет. В результате найдено 1175 публикаций, из них выбрано 97 статей.
Результаты: В статье представлен обзор литературы по этиопатогенезу, диагностике, лечению и осложнениям диффузного семейного полипоза (ДСП) у детей. По мнению многих авторов, в основе заболевания лежит мутация в гене АРС. Диагноз ставится на основании данных фиброколоноскопии с биопсией и генетического тестирования. Наиболее частыми осложнениями являются доброкачественные узлы щитовидной железы (2–12%), рак щитовидной железы (38–79%) и гепатобластома. На высокий риск развития осложнений указывает полное генетическое обследование и выявление альфа-фетопротеина у родственников при выявлении ДСП и динамическом контроле в возрасте до 15 лет. Тактика лечения зависит от нозологической формы ДСП и определяется с участием профильных специалистов (педиатра, проктолога, онколога, патологоанатома, генетика, молекулярного биолога). Вопрос о вариантах хирургической тактики остается открытым. Однако большинство авторов предлагают выполнение колпроктоэктомии с формировнаием тонкокишечного резервуара с илеоанальным анастомозом, улучшающие функциональные аспекты. Хирургическое лечение проводится в специализированных детских центрах колопроктологии в любом возрасте.
Выводы При диагностике ДСП у детей необходимо оценить вероятность развития злокачественной опухоли. В послеоперационном периоде требуется реабилитация при участии мультидисциплинарной команды, состоящей из педиатров, гастроэнтерологов, онкологов, патоморфологов, генетика и молекулярного биолога.
Асылжан М. Месова1, https://orcid.org/0000-0001-5373-0523
Махмутбай Санбаев1, https://orcid.org/0000-0001-8681-6972
Қуат Д. Акимжанов1, https://orcid.org/0000-0003-1886-0538
Саматбек Т. Абдрахманов1, https://orcid.org/0000-0002-4270-3498
Ольга Т. Ван1, https://orcid.org/0000-0003-3065-2061
Жанар М. Уразалина1, https://orcid.org/0000-0002-4494-6565
1 НАО «Медицинский университет Семей»,
г. Семей, Республика Казахстан.
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Месова А.М., Санбаев М., Акимжанов Қ.Д., Абдрахманов С.Т., Ван О.Т., Уразалина Ж.М. Диффузный семейный полипоз у детей: обзор литературы // Наука и Здравоохранение. 2023. 4(Т.25). С. 182-190. DOI 10.34689/SH.2023.25.4.023Ұқсас жариялымдар:
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