problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl201662321-24problendo-7933Research ArticleКлинические случаиCase ReportsКлинический случай врожденного гипотиреоза, обусловленного дефектом гена NKX2-1Case of congenital hypothyroidism related to NKX2-1МакрецкаяНина АлексеевнаMakretskayaNina A.

аспирант

makretskayan@gmail.comКалинченкоНаталья ЮрьевнаKalinchenkoNatalya Y.

к.м.н., ведущий научный сотрудник

kalinnat@rambler.ruВасильевЕвгений ВитальевичVasilievEvgeny V.

к.б.н., старший научный сотрудник

PhD, Researcher

vas-evg@yandex.ruПетровВасилий МихайловичPetrovVasiliy M.

к.х.н., старший научный сотрудник

PhD, Researcher

petrov.vasiliy@gmail.comТюльпаковАнатолий НиколаевичTiulpakovAnatoly N.

д.м.н., заведующий отделением наследственных

MD, PhD

anatolytiulpakov@gmail.comФГБУ «Эндокринологический научный центр» Минздрава РоссииРоссияEndocrinology Research CentreRussian Federation2016070620166232124Copyright © Макрецкая Н.А., Калинченко Н.Ю., Васильев Е.В., Петров В.М., Тюльпаков А.Н., 20162016Макрецкая Н.А., Калинченко Н.Ю., Васильев Е.В., Петров В.М., Тюльпаков А.Н.Makretskaya N.A., Kalinchenko N.Y., Vasiliev E.V., Petrov V.M., Tiulpakov A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/7933

Белок NKX2-1 является транскрипционным фактором. Ген NKX2-1 экспрессируется в тканях щитовидной железы, мозга и легких. Мутации в гене NKX2-1 обусловливают развитие неврологических нарушений, гипотиреоза, респираторного дистресс-синдрома. Сочетание данных симптомов известно как синдром «мозг—легкие—щитовидная железа». Отличительной чертой данной патологии и наиболее частым ее проявлением является доброкачественная наследственная хорея. Манифестируя в раннем детском возрасте, хорея не прогрессирует после второго десятилетия жизни. Респираторные нарушения — вторые по частоте проявления синдрома включают респираторный дистресс-синдром у новорожденных, интерстициальные заболевания в возрасте от 4 мес до 7 лет и фиброз легких у пожилых людей. Степень дисфункции щитовидной железы варьирует от манифестного врожденного гипотиреоза до субклинического гипотиреоза у подростков. Триада симптомов встречается лишь в 50% случаев. Статья содержит клиническое описание случая синдрома «мозг—легкие—щитовидная железа». Впервые выявлена мутация c.628_772del в гене NKX2-1.

NKX2-1 is a transcription factor. Gene NKX2-1 is expressed in tissues of the thyroid gland, brain and lungs. Mutations of NKX2-1 can lead to neurological disorders, hypothyroidism, and respiratory distress syndrome. The combinations of these symptoms are known as brain-lung-thyroid syndrome. Benign hereditary chorea is the characteristic feature of this disease and the most common manifestation of it. Chorea progresses into the second decade after which it remains stable or may even spontaneously remit. Pulmonary dysfunction is the second most common manifestation of NKX2-1-related disorders. They include respiratory distress syndrome of the newborns, interstitial lung disease between ages four months and seven years and pulmonary fibrosis in older individuals. Thyroid dysfunction can present as congenital hypothyroidism or subclinical hypothyroidism in adolescents. The combination of triad of the syndrome is present in only 50% of patients. This study includes a description of patient with brain-lung-thyroid syndrome. We described the novel mutation c.628_772del in the gene NKX2-1.

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