Brain–lung–thyroid syndrome: Literature review and series of clinical observations

Brain–lung–thyroid syndrome (BLTS) is a rare genetic disease associated with mutations in the NKX2.1 gene encoding thyroid transcription factor 1. The most common manifestations of this syndrome are benign hereditary chorea, hypothyroidism and respiratory distress syndrome, however, mutations in the NKX2.1 gene can also cause other pathologies of nervous, respiratory systems and thyroid gland. The article describes 4 patients with mutations in the NKX2.1 gene observed by authors. Based on the analysis of the observations of 168 patients with BLTS presented in the world literature from 1998 to 2019, current information on the genetics, pathogenesis, clinical X-ray manifestations, outcomes and treatment of the syndrome are summarized. © 2019, Pediatria Ltd. All rights reserved.

Авторы
Zhestkova M.A. 1 , Ovsyannikov D. 1, 2 , Vasilieva T.G.3 , Donin I.M.4 , Klyukhina Y.B.5 , Kolmykova A.V.6 , Kryuchko D.S.7 , Kustova O.V.7 , Migali A.V.7 , Migali A.I.8 , Nikitina M.I.9 , Orlov A.V.9 , Petruk N.I. 1 , Petryaykina E.E. 1, 2 , Samsonovich I.R.2 , Fisenko A.P.7 , Кhaldeev S.S. 1 , Khaldeeva M.D. 1 , Chernyaev A.L.10
Номер выпуска
5
Язык
Русский
Страницы
85-93
Статус
Опубликовано
Том
98
Год
2019
Организации
  • 1 Peoples’ Friendship University of Russia, Russian Federation
  • 2 Morozov Children’s City Clinical Hospital, Moscow, Russian Federation
  • 3 Regional Clinical Center of Specialized Medical Care, Vladivostok, Russian Federation
  • 4 Perinatal Medical Center «Mother and Child», Moscow, Russian Federation
  • 5 Consultative Diagnostic Center for Children, St. Petersburg, Russian Federation
  • 6 Regional Children’s Clinical Hospital № 2, Vladivostok, Russian Federation
  • 7 National Medical Research Center of Children’s Health, Russian Federation
  • 8 I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation
  • 9 St. Olga City Children’s Hospital, St. Petersburg, Russian Federation
  • 10 Scientific Research Institute of Pulmonology, Federal Biomedical Agency of Russia, Moscow, Russian Federation
Ключевые слова
Brain–lung–thyroid syndrome; Children; Diagnostics; Genetics; Mutations; Observations
Дата создания
24.12.2019
Дата изменения
24.12.2019
Постоянная ссылка
https://repository.rudn.ru/ru/records/article/record/55085/