3 research outputs found
Brainβlungβthyroid syndrome: Literature review and series of clinical observations
Brainβlungβthyroid 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. Β© 2019, Pediatria Ltd. All rights reserved
Π‘ΠΈΠ½Π΄ΡΠΎΠΌ "ΠΌΠΎΠ·Π³-Π»Π΅Π³ΠΊΠΈΠ΅-ΡΠΈΡΠΎΠ²ΠΈΠ΄Π½Π°Ρ ΠΆΠ΅Π»Π΅Π·Π°": ΠΎΠ±Π·ΠΎΡ Π»ΠΈΡΠ΅ΡΠ°ΡΡΡΡ ΠΈ ΡΠ΅ΡΠΈΡ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ Π½Π°Π±Π»ΡΠ΄Π΅Π½ΠΈΠΉ
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.Π‘ΠΈΠ½Π΄ΡΠΎΠΌ Β«ΠΌΠΎΠ·Π³-Π»Π΅Π³ΠΊΠΈΠ΅-ΡΠΈΡΠΎΠ²ΠΈΠ΄Π½Π°Ρ ΠΆΠ΅Π»Π΅Π·Π°Β» (Π‘ΠΠΠ©Π) - ΡΠ΅Π΄ΠΊΠΎΠ΅ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ΅ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠ΅, Π°ΡΡΠΎΡΠΈΠΈΡΠΎΠ²Π°Π½Π½ΠΎΠ΅ Ρ ΠΌΡΡΠ°ΡΠΈΡΠΌΠΈ Π² Π³Π΅Π½Π΅ NKX2.1, ΠΊΠΎΠ΄ΠΈΡΡΡΡΠ΅ΠΌ ΡΠΈΡΠ΅ΠΎΠΈΠ΄Π½ΡΠΉ ΡΠ°ΠΊΡΠΎΡ ΡΡΠ°Π½ΡΠΊΡΠΈΠΏΡΠΈΠΈ-1. ΠΠ°ΠΈΠ±ΠΎΠ»Π΅Π΅ ΡΠ°ΡΡΡΠΌΠΈ ΠΏΡΠΎΡΠ²Π»Π΅Π½ΠΈΡΠΌΠΈ Π΄Π°Π½Π½ΠΎΠ³ΠΎ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΡΠ²Π»ΡΡΡΡΡ Π΄ΠΎΠ±ΡΠΎΠΊΠ°ΡΠ΅ΡΡΠ²Π΅Π½Π½Π°Ρ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½Π°Ρ Ρ
ΠΎΡΠ΅Ρ, Π³ΠΈΠΏΠΎΡΠΈΡΠ΅ΠΎΠ· ΠΈ ΡΠ΅ΡΠΏΠΈΡΠ°ΡΠΎΡΠ½ΡΠΉ Π΄ΠΈΡΡΡΠ΅ΡΡ-ΡΠΈΠ½Π΄ΡΠΎΠΌ, ΠΎΠ΄Π½Π°ΠΊΠΎ ΠΌΡΡΠ°ΡΠΈΠΈ Π² Π³Π΅Π½Π΅ NKX2.1 ΠΌΠΎΠ³ΡΡ Π±ΡΡΡ ΠΏΡΠΈΡΠΈΠ½ΠΎΠΉ ΠΈ Π΄ΡΡΠ³ΠΎΠΉ ΠΏΠ°ΡΠΎΠ»ΠΎΠ³ΠΈΠΈ ΡΠΎ ΡΡΠΎΡΠΎΠ½Ρ Π½Π΅ΡΠ²Π½ΠΎΠΉ, Π΄ΡΡ
Π°ΡΠ΅Π»ΡΠ½ΠΎΠΉ ΡΠΈΡΡΠ΅ΠΌ ΠΈ ΡΠΈΡΠΎΠ²ΠΈΠ΄Π½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ. Π ΡΡΠ°ΡΡΠ΅ ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½ΠΎ ΠΎΠΏΠΈΡΠ°Π½ΠΈΠ΅ 4 ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ ΠΌΡΡΠ°ΡΠΈΡΠΌΠΈ Π² Π³Π΅Π½Π΅ NKX2.1, Π½Π°Π±Π»ΡΠ΄Π°Π²ΡΠΈΡ
ΡΡ Π°Π²ΡΠΎΡΠ°ΠΌΠΈ. ΠΠ° ΠΎΡΠ½ΠΎΠ²Π°Π½ΠΈΠΈ Π°Π½Π°Π»ΠΈΠ·Π° Π½Π°Π±Π»ΡΠ΄Π΅Π½ΠΈΠΉ 168 ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π‘ΠΠΠ©Π, ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½Π½ΡΡ
Π² ΠΌΠΈΡΠΎΠ²ΠΎΠΉ Π»ΠΈΡΠ΅ΡΠ°ΡΡΡΠ΅ Ρ 1998 ΠΏΠΎ 2019 Π³Π³., ΠΎΠ±ΠΎΠ±ΡΠ΅Π½Ρ ΡΠΎΠ²ΡΠ΅ΠΌΠ΅Π½Π½ΡΠ΅ ΡΠ²Π΅Π΄Π΅Π½ΠΈΡ ΠΎ Π³Π΅Π½Π΅ΡΠΈΠΊΠ΅, ΠΏΠ°ΡΠΎΠ³Π΅Π½Π΅Π·Π΅, ΠΊΠ»ΠΈΠ½ΠΈΠΊΠΎ-ΡΠ΅Π½ΡΠ³Π΅Π½ΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΏΡΠΎΡΠ²Π»Π΅Π½ΠΈΡΡ
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