肺表面活性物质蛋白C基因I73T突变相关性婴幼儿肺间质疾病一例并文献复习

I73T mutation in the pulmonary surfactant protein C gene associated with pediatric interstitial lung disease ： a case study and the review of related literature

目的 报告1例肺表面活性物质蛋白C（SP-C）基因I73T突变相关性婴幼儿肺间质疾病的诊断过程,复习文献,探讨基因检测在诊断婴幼儿肺间质疾病中的作用.方法 总结、分析本病例的临床、胸部影像学及基因检测资料并进行相关文献复习.结果 （1）病例资料：患儿女,8月龄,因咳嗽,呼吸急促5个月余入院.3月龄时因重症肺炎行气管插管机械通气治疗,拔管后需持续氧气治疗,生长受限.入院体检：身高58 cm,体重6.4 kg,呼吸50次/min,三凹征（＋）,唇周稍紫绀,双肺散在细湿哕音,杵状指.病原学检查均阴性,多次血气检测提示低氧血症,胸部CT：两肺纹理增多,两肺磨玻璃样改变伴弥漫细小结节影.SP相关基因检测提示：SP-C基因I73T突变.（2）复习文献：3例SP-C基因I73T突变婴幼儿肺间质疾病患儿资料显示：临床表现主要为呼吸急促、呼吸困难,影像学多表现为弥漫性肺部浸润或弥漫性磨玻璃影,肺组织病理改变主要为非特异性间质性肺炎.结论 （1）初步诊断1例SP-C基因I73T突变相关性婴幼儿肺间质疾病.（2）基因检测在诊断婴幼儿肺间质疾病中具有重要作用.

Objective To report a case of I73T mutation in the pulmonary surfactant protein （SP）-C gene associated with pediatric interstitial lung disease,and study the clinical diagnosis and review related literature,to investigate the role of gene detection in the diagnosis of interstitial lung disease in infants and children.Method The clinical,radiological,and genetic testing information of the case was analyzed and related literature was reviewed.Result （1） An 8-month-old girl was hospitalized because of cough,tachypnea,continuous oxygen therapy and failure to thrive.Physical examination on admission revealed tachypnea,slight cyanosis and the three concave sign was positive,respiratory rate of 50 times/minute,scattered fine crackles could be heard over both lungs,clubbing fingers were found.No other abnormalities were noted.Laboratory test results：pathogenic examination was negative,multiple blood gas analysis suggested hypoxemia.Chest CT showed ground-glass like opacity,diffused tubercle infiltration.The I73T mutation in SP-C gene was identified by SP-related gene sequencing.（2） The review of related literature：Data of 3 infants with I73T mutation in SP-C gene showed that all the 3 cases had tachypnea and dyspnea,chest CT revealed diffuse infiltration or diffuse ground glass pattern in lungs,the major pathology of lungs was nonspecific interstitial pneumonia （NSIP）.Conclusion A case of interstitial lung disease with I73T mutation in SP-C gene was preliminarily diagnosed in an infant.Gene test provides an important tool in the diagnosis of such pediatric interstitial lung disease.