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.

Authors
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
Number of issue
5
Language
Russian
Pages
85-93
Status
Published
Volume
98
Year
2019
Organizations
  • 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
Keywords
Brain–lung–thyroid syndrome; Children; Diagnostics; Genetics; Mutations; Observations
Date of creation
24.12.2019
Date of change
24.12.2019
Short link
https://repository.rudn.ru/en/records/article/record/55085/
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