Brain–lung–thyroid syndrome: Literature review and series of clinical observations
Жесткова М. А., Овсянников Д., Василиева Т. Г., Донин И. М., Клюхина Y. Б., Колмyкова А. В., Крючко Д. С., Кустова О. В., Мигали А. В., Мигали А. И., Никитина М. И., Орлов А. В., Петрук Н. И., Петрyайкина Е. Е., Самсонович И. Р., Фисенко А. П., Khaldeev S. S., Халдеева М. Д., Черняев А. Л.
Педиатрия. Журнал им. Г.Н. Сперанского
Т. 98, Вып. 5, С. 85-93
Опубликовано: 2019
Тип ресурса: Статья
DOI:10.24110/0031-403X-2019-98-5-85-93
Аннотация:
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.
Ключевые слова:
Brain–lung–thyroid syndrome; Children; Diagnostics; Genetics; Mutations; Observations
homeobox protein Nkx 2.1; Article; brain lung thyroid syndrome; central nervous system disease; chorea; clinical article; clinical observation; clinical outcome; gene mutation; genetic disorder; genetics; human; hypothyroidism; pathogenesis; respiratory distress syndrome; respiratory tract disease; thyroid disease; X ray
Язык текста: Русский
ISSN: 1990-2182
Жесткова М. А.
Овсянников Д.
Василиева Т. Г.
Донин И. М.
Клюхина Y. Б.
Колмyкова А. В.
Крючко Д. С.
Кустова О. В.
Мигали А. В.
Мигали А. И. Аксения Ивановна 1996-
Никитина М. И.
Орлов А. В.
Петрук Н. И.
Петрyайкина Е. Е.
Самсонович И. Р.
Фисенко А. П.
Khaldeev S. S.
Халдеева М. Д.
Черняев А. Л.
Zhestkova M. A.
Ovsyannikov D.
Vasilieva T. G.
Donin I. M.
Klyukhina Y. B.
Kolmykova A. V.
Kryuchko D. S.
Kustova O. V.
Migali A. V.
Migali A. I. Akseniya Ivanovna 1996-
Nikitina M. I.
Orlov A. V.
Petruk N. I.
Petryaykina E. E.
Samsonovich I. R.
Fisenko A. P.
Кхалдеев С. С.
Khaldeeva M. D.
Chernyaev A. L.
Brain–lung–thyroid syndrome: Literature review and series of clinical observations
Текст визуальный непосредственный
Педиатрия. Журнал им. Г.Н. Сперанского
ООО "Педиатрия"
Т. 98, Вып. 5 С. 85-93
2019
Статья
Brain–lung–thyroid syndrome Children Diagnostics Genetics Mutations Observations
homeobox protein Nkx 2.1 Article brain lung thyroid syndrome central nervous system disease chorea clinical article clinical observation clinical outcome gene mutation genetic disorder genetics human hypothyroidism pathogenesis respiratory distress syndrome respiratory tract disease thyroid disease X ray
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.