NK2同源盒1基因新发变异所致脑-肺-甲状腺综合征1例并文献复习

Brain-lung-thyroid syndrome caused by novel mutations in the NK2 homeobox 1 gene:a case report and literature review

脑-肺-甲状腺综合征(BLTS)是一种全球罕见的涉及多器官且具有明显异质性的疾病。本文总结1例NK2同源盒1(NKX2-1)基因新发变异所致BLTS临床特征及诊疗经过,并复习相关文献,以提高临床医师对该病的认识。患儿男,3岁,出生时有急性呼吸窘迫综合征病史,后出现运动及言语发育落后、反复肺部感染、代偿性甲状腺功能减退,全外显子基因检测显示NKX2-1基因外显子1~2杂合缺失。因此,对于有急性呼吸窘迫综合征病史患儿表现出神经系统异常、反复呼吸道感染或甲状腺功能减退时,应及时进行基因检测以助于早期诊断。

Brain-lung-thyroid syndrome is a global rare disease involving multiple organs with significant heterogeneity.This article summarizes the clinical characteristics,diagnosis and treatment of a case of brain-lung-thyroid syndrome caused by a new mutation of NK2 homeobox 1(NKX2-1)gene,and reviews the relevant literature to enhance clinical physicians′understanding of the disease.A 3-year-old boy presented with a history of acute respiratory distress syndrome at birth,and later developed delayed motor and speech development,recurrent pulmonary infections,and compensated hypothyroidism.Whole exon genetic testing revealed loss of exon heterozygosity 1-2 of NKX2-1 gene.Therefore,for children with a history of acute respiratory distress syndrome who present with neurological abnormalities,recurrent respiratory infections,or hypothyroidism,genetic testing should be performed in a timely manner to facilitate early diagnosis.