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Вопросы современной педиатрии

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Синдром делеции 22q11.2: симптомы, диагностика, лечение

https://doi.org/10.15690/vsp.v15i6.1656

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Аннотация

Статья посвящена анализу последствий хромосомной аномалии в результате делеции участка длинного плеча хромосомы 22. Это приводит к многообразным клиническим проявлениям: врожденным порокам сердца, аномалиям развития крупных сосудов, врожденным порокам челюстно-лицевой области, а также эндокринным и иммунным нарушениям. Синдром делеции 22q11.2 — del 22q11.2 (22q11DS) — может проявляться более чем 180 различными физическими, функциональными и психическими ассоциациями, что оказывает влияние на здоровье и качество жизни пациента уже с рождения. Постановка клинического диагноза и ранняя диагностика играют существенную роль в оптимизации лечения, а осведомленность и понимание патологических процессов при del 22q11.2 однозначно предполагают использование принципов мультидисциплинарного лечения. В данной статье описано современное научное понимание синдрома делеции 22q11.2, основанное на опыте зарубежных и отечественных авторов. Описаны основные клинические симптомы, диагностика и рекомендации по обследованию и лечению данной категории больных.

Об авторах

Л. С. Намазова-Баранова
Научный центр здоровья детей Первый Московский государственный медицинский университет им. И.М. Сеченова Российский национальный исследовательский медицинский университет им. Н.И. Пирогова
Россия

доктор медицинских наук, профессор, академик РАН, заместитель директора НЦЗД по научной работе, директор НИИ педиатрии Адрес: 119991, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (499) 783-27-93



О. В. Гинтер
Научный центр здоровья детей
Россия
Москва, Российская Федерация


Т. А. Полунина
Научный центр здоровья детей
Россия
Москва, Российская Федерация


И. В. Давыдова
Научный центр здоровья детей Первый Московский государственный медицинский университет им. И.М. Сеченова
Россия
Москва, Российская Федерация


К. В. Савостьянов
Научный центр здоровья детей
Россия
Москва, Российская Федерация


А. А. Пушков
Научный центр здоровья детей
Россия
Москва, Российская Федерация


Н. В. Журкова
Научный центр здоровья детей
Россия
Москва, Российская Федерация


Т. Я. Мосьпан
Научный центр здоровья детей
Россия
Москва, Российская Федерация


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Для цитирования:


Намазова-Баранова Л.С., Гинтер О.В., Полунина Т.А., Давыдова И.В., Савостьянов К.В., Пушков А.А., Журкова Н.В., Мосьпан Т.Я. Синдром делеции 22q11.2: симптомы, диагностика, лечение. Вопросы современной педиатрии. 2016;15(6):590-595. https://doi.org/10.15690/vsp.v15i6.1656

For citation:


Namazova-Baranova L.S., Ginter O.V., Polunina T.A., Davydova I.V., Savostyanov K.V., Pushkov A.A., Jourkova N.V., Mospan T.Y. 22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment. Current Pediatrics. 2016;15(6):590-595. (In Russ.) https://doi.org/10.15690/vsp.v15i6.1656

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