肺表面活性蛋白基因突变相关性婴幼儿肺间质疾病一例报告并文献复习  

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

作　　者：朱春梅[1] 曹玲[1] 黄荣妍[1] 王亚军[1] 邹继珍[2] 袁新宇[3] 宋昉[4] 陈慧中[1] 

机构地区：[1]首都儿科研究所附属儿童医院呼吸科,北京100020 [2]首都儿科研究所附属儿童医院病理科,北京100020 [3]首都儿科研究所附属儿童医院放射科,北京100020 [4]首都儿科研究所附属儿童医院遗传室,北京100020

出　　处：《中华儿科杂志》2013年第2期84-89,共6页Chinese Journal of Pediatrics

摘　　要：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。人院体检：呼吸60~／min，口周略紫绀，三凹征（＋），两肺底可闻及细湿哕音，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。人院后经抗感染、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基因突变婴幼儿肺问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问质性肺炎，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。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 on admission 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 the219th 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 childr

关 键 词：肺间质疾病 肺表面活性物质蛋白 基因 突变 婴幼儿 

分 类 号：R725.6[医药卫生—儿科]