BRAIN–LUNG–THYROID SYNDROME

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 variab...

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Main Authors: M. A. Belyashova, D. Yu. Ovsyannikov
Format: Article
Language:English
Published: Paediatrician Publishers, LLC 2014-11-01
Series:Pediatričeskaâ Farmakologiâ
Subjects:
Online Access:https://www.pedpharma.ru/jour/article/view/36
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spelling doaj-d73e731a30e649018f3f8c2fc99774432021-07-28T16:32:23ZengPaediatrician Publishers, LLCPediatričeskaâ Farmakologiâ1727-57762500-30892014-11-01116566110.15690/pf.v11i6.121636BRAIN–LUNG–THYROID SYNDROMEM. A. Belyashova0D. Yu. Ovsyannikov1Peoples’ Friendship University of Russia, Moscow, Russian FederationPeoples’ Friendship University of Russia, Moscow, Russian FederationBrain-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.https://www.pedpharma.ru/jour/article/view/36brain-lung-thyroid syndromegeneticsdiagnosisclinical observation
collection DOAJ
language English
format Article
sources DOAJ
author M. A. Belyashova
D. Yu. Ovsyannikov
spellingShingle M. A. Belyashova
D. Yu. Ovsyannikov
BRAIN–LUNG–THYROID SYNDROME
Pediatričeskaâ Farmakologiâ
brain-lung-thyroid syndrome
genetics
diagnosis
clinical observation
author_facet M. A. Belyashova
D. Yu. Ovsyannikov
author_sort M. A. Belyashova
title BRAIN–LUNG–THYROID SYNDROME
title_short BRAIN–LUNG–THYROID SYNDROME
title_full BRAIN–LUNG–THYROID SYNDROME
title_fullStr BRAIN–LUNG–THYROID SYNDROME
title_full_unstemmed BRAIN–LUNG–THYROID SYNDROME
title_sort brain–lung–thyroid syndrome
publisher Paediatrician Publishers, LLC
series Pediatričeskaâ Farmakologiâ
issn 1727-5776
2500-3089
publishDate 2014-11-01
description 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.
topic brain-lung-thyroid syndrome
genetics
diagnosis
clinical observation
url https://www.pedpharma.ru/jour/article/view/36
work_keys_str_mv AT mabelyashova brainlungthyroidsyndrome
AT dyuovsyannikov brainlungthyroidsyndrome
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