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Синдром Пейтца-Егерса: что стало известно за 125 лет изучения? (обзор литературы)

https://doi.org/10.33878/2073-7556-2021-20-2-85-96

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Аннотация

Синдром Пейтца-Егерса (СПЕ) является крайне редким аутосомно-доминантным наследственным заболеванием, которое клинически характеризуется ростом гамартомных полипов в желудочно-кишечном тракте, слизисто-кожной пигментацией и повышенным риском возникновения злокачественных новообразований различной локализации. В большинстве случаев развитие СПЕ связано с наличием мутации в гене STK11, однако не у всех пациентов имеется данная мутация. В настоящем обзоре литературы представ- лены исторические аспекты появления данных о СПЕ, рассмотрены клинические проявления заболевания, актуальные методы диагностики, а также современные знания о генетических причинах развития СПЕ, риске возникновения злокачественных новообразований у пациентов с СПЕ, существующие рекомендации по скринингу и лечению пациентов с СПЕ. Однако наличие ряда нерешенных до настоящего времени вопросов в генетике, мониторинге и лечении свидетельствуют о необходимости дальнейших исследований.

Об авторах

Т. А. Савельева
ФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава России
Россия

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



Д. Ю. Пикунов
ФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава России
Россия

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



А. М. Кузьминов
ФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава России
Россия

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



А. С. Цуканов
ФГБУ «НМИЦ колопроктологии имени А.Н. Рыжих» Минздрава России
Россия

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



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Для цитирования:


Савельева Т.А., Пикунов Д.Ю., Кузьминов А.М., Цуканов А.С. Синдром Пейтца-Егерса: что стало известно за 125 лет изучения? (обзор литературы). Колопроктология. 2021;20(2):85-96. https://doi.org/10.33878/2073-7556-2021-20-2-85-96

For citation:


Savelyeva T.A., Pikunov D.Yu., Kuzminov A.M., Tsukanov A.S. Peutz-Jeghers syndrome: what has been known for 125 years of research? (review). Koloproktologia. 2021;20(2):85-96. https://doi.org/10.33878/2073-7556-2021-20-2-85-96

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ISSN 2073-7556 (Print)
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