CAJ | 학술논문

目的报告1例肺表面活性蛋白(SP)基因突变相关性婴幼儿肺间质疾病的临床诊断过程,复习文献,了解SP基因突变与婴幼儿肺间质疾病的关系.方法总结、分析病例的临床、胸部影像学、肺活检病理资料及基因检测资料并进行相关文献复习.结果 (1)病例资料:2岁女童因呼吸急促,咳嗽、咳痰,进行性加重3月余入院,既往体健.入院体检:呼吸60次/min,口周略紫绀,三凹征(+),两肺底可闻及细湿啰音,未见杵状指、趾.病原学检查均阴性,多次血气分析提示低氧血症,胸部高分辨CT提示双肺野磨玻璃密度影,双肺野内见弥漫斑片、索条影.入院后经抗感染、抗炎治疗,临床无好转,胸部CT无改变,行胸腔镜下肺活检术,肺组织病理符合慢性间质性肺炎伴部分纤维化.SP相关基因检测提示:SP-A1基因R219W突变,SP-C基因S186N突变.(2)复习文献:1篇文献报道成人特发性肺纤维化患者携带SP-A1基因R219W突变,无相关儿童病例报告；17例SP-C基因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,肺组织病理改变主要为非特异性间质性肺炎,检测到17种SP-C基因突变.所报病例SP-A1基因突变与成年人特发性肺纤维化患者SP-A1基因突变一致；SP-C基因S186N突变,在已发表婴幼儿SP-C突变病例中尚未见报告.结论 (1)初步诊断1例与SP-C基因S186N突变相关性婴幼儿肺间质疾病.(2) SP-C基因突变与部分婴幼儿肺间质疾病发病密切相关.
목적 보고1례폐표면활성단백(SP)기인돌변상관성영유인폐간질질병적림상진단과정,복습문헌,료해SP기인돌변여영유인폐간질질병적관계.방법 총결、분석병례적림상、흉부영상학、폐활검병리자료급기인검측자료병진행상관문헌복습.결과 (1)병례자료:2세녀동인호흡급촉,해수、해담,진행성가중3월여입원,기왕체건.입원체검:호흡60차/min,구주략자감,삼요정(+),량폐저가문급세습라음,미견저상지、지.병원학검사균음성,다차혈기분석제시저양혈증,흉부고분변CT제시쌍폐야마파리밀도영,쌍폐야내견미만반편、색조영.입원후경항감염、항염치료,림상무호전,흉부CT무개변,행흉강경하폐활검술,폐조직병리부합만성간질성폐염반부분섬유화.SP상관기인검측제시:SP-A1기인R219W돌변,SP-C기인S186N돌변.(2)복습문헌:1편문헌보도성인특발성폐섬유화환자휴대SP-A1기인R219W돌변,무상관인동병례보고；17례SP-C기인돌변영유인폐간질질병환인자료현시:림상표현주요위호흡급촉,호흡곤난,영상학다표현위미만성폐부침윤,폐조직병리개변주요위비특이성간질성폐염,검측도17충SP-C기인돌변.소보병례SP-A1기인돌변여성년인특발성폐섬유화환자SP-A1기인돌변일치；SP-C기인S186N돌변,재이발표영유인SP-C돌변병례중상미견보고.결론 (1)초보진단1례여SP-C기인S186N돌변상관성영유인폐간질질병.(2) SP-C기인돌변여부분영유인폐간질질병발병밀절상관.
Objective To report a case of pulmonary surfactant protein (SP) gene mutation associated with pediatric interstitial lung disease,and study the clinical diagnosis process and review of related literature,to understand the relationship between interstitial lung disease and SP gene mutation in infants and children.Method The clinical,radiological,histological,and genetic testing information of a case of SP gene mutation related pediatric interstitial lung disease were analyzed and related literature was reviewed.Result A 2-year-old girl without a history of serious illness was hospitalized because of the shortness of breath,cough,excessive sputum,and the progressive dyspnea.Physical examination onadmission revealed tachypnea,slight cyanosis,and the retraction signs were positive,respiratory rate of 60 times/minute,fine crackles could be heard through the lower lobe of both lungs ; heart rate was 132 beats/minute.No other abnormalities were noted,no clubbing was found.Laboratory test results:pathologic examination was negative,multiple blood gas analysis suggested hypoxemia.Chest CT showed ground-glass like opacity,diffused patchy infiltration.Bronchoalveolar lavage fluid had a large number of neutrophils,and a few tissue cells.Eosinophil staining:negative.Fluconazole and methylprednisolone were given after admission,pulmonary symptoms and signs did not improve,reexamination showed no change in chest CT.Then lung biopsy was carried out through thoracoscopy.Histopathology suggested chronic interstitial pneumonia with fibrosis.The heterozygous mutation of R219W in the SFPTA1 and the S186N in SFTPC were identified by SP-related gene sequencing.The review of related literature showed that polymorphisms at the 219th amino acid in SP-A1 allele were found in adults with idiopathic pulmonary fibrosis(IPF),but there is no related literature in pediatric cases.The patient in this report had a mutation at the SP-A1 allele consistent with related literature.Data of 17 young children with mutation in SP-C gene showed that all the 17 cases had dyspnea and tachypnea,chest CT revealed diffuse opacities in lungs,the pathology of lungs was NSIP and CPI.There were 17 kinds of mutation and the common mutation was I73T.The mutation of S186N in SFTPC in our case has never been shown in previously published literature.Conclusion A case of interstitial lung disease with S186N gene mutation in SFTPC was preliminarily diagnosed in an infant.The SP-C gene mutations and polymorphisms are associated with pediatric interstitial lung disease.