CAJ | 학술논문

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.
목적 보고1례폐표면활성물질단백C(SP-C)기인I73T돌변상관성영유인폐간질질병적진단과정,복습문헌,탐토기인검측재진단영유인폐간질질병중적작용.방법 총결、분석본병례적림상、흉부영상학급기인검측자료병진행상관문헌복습.결과 (1)병례자료:환인녀,8월령,인해수,호흡급촉5개월여입원.3월령시인중증폐염행기관삽관궤계통기치료,발관후수지속양기치료,생장수한.입원체검:신고58 cm,체중6.4 kg,호흡50차/min,삼요정(+),진주초자감,쌍폐산재세습홰음,저상지.병원학검사균음성,다차혈기검측제시저양혈증,흉부CT:량폐문리증다,량폐마파리양개변반미만세소결절영.SP상관기인검측제시:SP-C기인I73T돌변.(2)복습문헌:3례SP-C기인I73T돌변영유인폐간질질병환인자료현시:림상표현주요위호흡급촉、호흡곤난,영상학다표현위미만성폐부침윤혹미만성마파리영,폐조직병리개변주요위비특이성간질성폐염.결론 (1)초보진단1례SP-C기인I73T돌변상관성영유인폐간질질병.(2)기인검측재진단영유인폐간질질병중구유중요작용.
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.