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СИНДРОМ МОЗГ–ЛЕГКИЕ–ЩИТОВИДНАЯ ЖЕЛЕЗА

https://doi.org/10.15690/pf.v11i6.1216

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Аннотация

Синдром мозг–легкие–щитовидная железа — редкое генетическое заболевание, проявляющееся поражением одноименных органов. В основе синдрома лежат мутации в гене NKX2-1, кодирующем фактор транскрипции щитовидной железы. Клиническая манифестация синдрома мозг–легкие–щитовидная железа характеризуется вариабельным фенотипом. В статье представлено первое в России клиническое наблюдение пациента с генетически подтвержденным заболеванием. Сочетание таких симптомов, как задержка моторного развития, атаксия, мышечная гипотония, рецидивирующие инфекции нижних дыхательных путей, гипотиреоз, позволило предположить, а затем подтвердить при генетическом исследовании синдром мозг–легкие–щитовидная железа. В статье также представлены данные мировой литературы (1998–2014 гг.), касающиеся клинических наблюдений этого заболевания ― генетики, патогенеза, патоморфологии, клинической картины, терапии.

 

Об авторах

М. А. Беляшова
Российский университет дружбы народов, Москва, Российская Федерация
Россия

клинический ординатор, лаборант кафедры педиатрии Российского университета дружбы народов
Адрес: 117198, Москва, ул. Миклухо-Маклая, д. 6, тел.: +7 (499) 236-11-52



Д. Ю. Овсянников
Российский университет дружбы народов, Москва, Российская Федерация
Россия


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Для цитирования:


Беляшова М.А., Овсянников Д.Ю. СИНДРОМ МОЗГ–ЛЕГКИЕ–ЩИТОВИДНАЯ ЖЕЛЕЗА. Педиатрическая фармакология. 2014;11(6):56-61. https://doi.org/10.15690/pf.v11i6.1216

For citation:


Belyashova M.A., Ovsyannikov D.Y. BRAIN–LUNG–THYROID SYNDROME. Pediatric pharmacology. 2014;11(6):56-61. (In Russ.) https://doi.org/10.15690/pf.v11i6.1216

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