肺表面活性物质蛋白C基因218位点变异致婴幼儿肺间质疾病七例临床研究  

Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study

作　　者：刘静[1] 陈杰华[2] 王宇清[3] 农光民[1] 郑跃杰[2] 郝创利[3] Liu Jing;Chen Jiehua;Wang Yuqing;Nong Guangmin;Zheng Yuejie;Hao Chuangli(Department of Pediatrics,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021, China;Department of Respiratory Disease,Shenzhen Children's Hospital,Shenzhen 518026, China;Department of Respiratory Disease,Children's Hospital,Suzhou University,Suzhou 215025,China)

机构地区：[1]广西医科大学第一附属医院儿科,南宁530021 [2]深圳市儿童医院呼吸科,518026 [3]苏州大学附属儿童医院呼吸科,215025

出　　处：《中华儿科杂志》2019年第1期21-26,共6页Chinese Journal of Pediatrics

摘　　要：目的探讨肺表面活性物质蛋白C基因(SFTPC)218位点变异相关性婴幼儿肺间质疾病患儿的临床特点、转归及影响因素。方法回顾性分析广西医科大学第一附属医院儿科、深圳市儿童医院呼吸科及苏州大学附属儿童医院呼吸科2013年1月—2016年12月收治的7例SFTPC基因218位点变异相关性婴幼儿肺间质疾病的临床资料及转归。结果7例患儿均为足月儿,4例3月龄内发病,2例1岁以后发病,1例3月龄至1岁之间发病,临床以咳嗽、气促、呼吸困难等为主要表现,伴生长发育受限,无法脱离鼻导管给氧,血气分析提示低氧血症,4例慢性缺氧、杵状指。胸部CT均表现两肺弥漫性磨玻璃影。3例血巨细胞病毒(CMV)免疫球蛋白M或CMV-DNA阳性。7例患儿变异的部位均在exon3,其中5例患儿为SFTPC基因c.218T>C,p.lle73Thr(杂合变异),2例患儿为SFTPC基因c.218T>A,p.lle73Asn(纯合变异),1例合并ABCA3基因变异。4例患儿单纯应用泼尼松治疗,1例应用泼尼松联合羟氯喹治疗,2例对症治疗。3例死亡,3例好转,1例失访。结论SFTPC基因218位点变异相关的婴幼儿肺间质性疾病的临床表现特异性不强,其严重程度及转归可能受到病毒感染等多因素影响,单独糖皮质激素治疗对部分患儿可能作用有限。Objective To investigate the clinical features and outcomes of pulmonary surfactant protein C gene(SFTPC)218 site mutation in children with pulmonary interstitial disease.Methods In this retrospective study,the clinical data,outcomes and influencing factors of 7 cases of SFTPC gene 218 site mutations in infants with interstitial lung disease in three hospitals from January 2013 to December 2016 were analyzed.Results Seven cases were full-term children,4 cases had the onset within 3 months after birth,2 cases after 1 year old,1 case within 3 months to 1 year,clinical manifestations of these cases were cough,shortness of breath,dyspnea,and limited growth and development,could not maintain life without additional oxygen supplementation,blood gas analysis showed hypoxemia,4 cases had clubbing.Chest CT showed diffuse ground glass-like change in both lungs.Three cases were positive for cytomegalovirus(CMV)-IgM or CMV-DNA.The mutations in 7 cases were exon 3,5 of which were SFTPC gene c.218T>C,p.lle73Thr(heterozygous mutation),and 2 cases were SFTPC gene c.218T>A,p.lle73Asn(homozygous mutation),1 case combined with ABCA3 gene mutations.Four patients were treated with prednisone alone,one with prednisone plus hydroxychloroquine,and two with symptomatic treatment.Three patients died,3 patients improved,and 1 patient was lost to follow-up.Conclusions The severity and prognosis of the children with SP-C 218 site mutation may be affected by many factors.Some children who received glucocorticoid alone do not have a good response.

关 键 词：间质性肺病 肺表面活性物质相关蛋白质类 基因 突变 婴幼儿 

分 类 号：R725.6[医药卫生—儿科]