ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v11i6.1216ppharm-36Research ArticleРЕДКИЕ БОЛЕЗНИRARE DISEASESСИНДРОМ МОЗГ–ЛЕГКИЕ–ЩИТОВИДНАЯ ЖЕЛЕЗАBRAIN–LUNG–THYROID SYNDROMEБеляшоваМ. А.BelyashovaM. A.

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

belyashova@gmail.comОвсянниковД. Ю.OvsyannikovD. Yu.belyashova@gmail.comРоссийский университет дружбы народов, Москва, Российская ФедерацияРоссияPeoples’ Friendship University of Russia, Moscow, Russian FederationRussian Federation201419112014116Педиатрическая фармакология5661Copyright © Беляшова М.А., Овсянников Д.Ю., 20142014Беляшова М.А., Овсянников Д.Ю.Belyashova M.A., Ovsyannikov D.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pedpharma.ru/jour/article/view/36

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.

 

Brain-lung-thyroid syndrome is a rare genetic disease characterized by pathology of the syndrome affected organs. This syndrome is based on mutations of the NKX2-1 gene, which encodes the thyroid transcription factor. Clinical manifestation of brain-lung-thyroid syndrome is characterized by a variable phenotype. The article presents the first Russian clinical observation of a patient with a genetically confirmed disease. Combination of such symptoms as motor development delay, ataxia, muscular hypotonia, recurrent lower airway infections, hypothyroidism helped to assume and then confirm brain-lung-thyroid syndrome by means of genetic analysis. The article also presents world literature findings (1998-2014) on clinical observations of this disease in respect of genetics, pathogenesis, pathomorphology, clinical pattern and therapy.

 

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