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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Paediatrician Publishers, LLC
2014-11-01
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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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1721266131889553408 |