2023 年第 11 期 第 18 卷

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

作者：李群超周浩泉

英文作者：Li Qunchao Zhou Haoquan

单位：安徽医科大学附属省立医院安徽省立医院儿科，合肥230001

英文单位：Department of Pediatrics Provincial Hospital Affiliated to Anhui Medical University Anhui Provincial Hospital Hefei 230001 China

关键词：脑-肺-甲状腺综合征；NK2同源盒1基因；精神运动发育落后；基因突变

英文关键词：Brain-lung-thyroidsyndrome;NK2homeobox1gene;Psychomotorretardation;Geneticmutations

• 摘要：

• 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.