致病原因不明的PICU患儿基因检测结果及临床特征研究  

Genetic testing results and clinical characteristics study of PICU patients with unknown pathogenesis

作　　者：刘娟[1] 郑宇 黄娇甜 臧平 姚震亚 卢秀兰 Liu Juan;Zheng Yu;Huang Jiaotian;Zang Ping;Yao Zhenya;Lu Xiulan(Intensive Care Unit,the Afiliated Children's Hospital of Xiangya School of Medicine,Central South University(Hunan Children's Hospital),Changsha 410007,China;Pediatrics Research Institute of Hunan Prvince,the Afiliated Children's Hospital of Xiangya School of Medicine,Central South University(Hunan Children's Hospital),Changsha 410007,China;The Key Laboratory of Emergency Medicine for Children,the Affiliated Children's Hospital of Xiangya School of Medicine,Central South University(Hunan Children's Hospital),Changsha 410007,China)

机构地区：[1]中南大学湘雅医学院附属儿童医院(湖南省儿童医院)重症医学科,长沙410007 [2]中南大学湘雅医学院附属儿童医院(湖南省儿童医院)儿科医学研究所,长沙410007 [3]中南大学湘雅医学院附属儿童医院(湖南省儿童医院)儿童急救医学湖南省重点实验室,长沙410007

出　　处：《中国小儿急救医学》2024年第12期894-899,共6页Chinese Pediatric Emergency Medicine

基　　金：儿童急救医学湖南省重点实验室(2018TP1028)。

摘　　要：目的总结分析儿童重症监护病房(PICU)致病原因不明患儿的基因检测结果及临床特征。方法收集2014年9月20日至2018年12月30日湖南省儿童医院PICU收治的临床诊断不明且完成全外显子组测序患儿的临床资料。根据基因检测结果, 将患儿分为基因检测阳性组和基因检测阴性组, 比较两组患儿的临床特征。结果共纳入患儿58例, 送检标本119个(包括患儿及其部分家属)。其中, 34例(58.6%)患儿发现致病性变异, 共检出39个致病基因;1例(1.7%)患儿检出3个致病基因, 3例(5.2%)患儿检出2个致病基因, 30例(51.7%)患儿检出1个致病基因。39个致病基因中, 18个(46.2%)为常染色体显性遗传, 15个(38.5%)为常染色体隐性遗传, 4个(10.3%)为X连锁隐性遗传, 2个(5.1%)为拷贝数变异。基因检测阳性组患儿中先天性心脏病比例高于基因检测阴性组(32.4%比8.3%, χ^(2)=4.668, P=0.031), 其余临床特征差异无统计学意义(P>0.05)。死亡患儿中, 基因检测阳性组与基因检测阴性组的临床特征差异无统计学意义(P>0.05)。58例患儿中, 死亡39例(67.2%), 死亡患儿的遗传性疾病诊断阳性率为66.7%(26/39)。基因检测阳性患儿病死率为76.5%(26/34), 遗传性疾病直接导致死亡22例(84.7%), 间接导致死亡4例。结论遗传性疾病是导致PICU患儿死亡的重要原因之一。PICU中遗传性疾病患儿临床特征复杂多样且缺乏特异性。全外显子组测序在PICU疑难危重症及死亡患儿中具有较高的诊断率, 建议对致病原因不明患儿行基因检测, 特别是合并先天性心脏病患儿, 以帮助明确诊断并指导治疗。Objectivee To summarize and analyze the results of gene detection and clinical characteristics of children with unknown etiology in pediatric intensive care unit(PICU).Methods The clinical data from children with unknown clinical diagnosis and completed the whole exon sequencing who were admitted to PICU at Hunan Children's Hospital from September 20,2014 to December 30,2018 were collected.According to the results of gene detection,patients were divided into positive gene test group and regative gene test group,and the clinical characteristics between two groups were compared.Results A total of 58 cases were included,and 119 samples were sent for the whole exone sequencing(including samples from both children and their families).Pathogenic mutations were identified in 34 cases(58.6%),with 39 pathogenic genes detected.Three pathogenic genes were detected in one patient(1.7%),two pathogenic genes were detected in each of the three patients(5.2%),and one pathogenic gene was detected in each of the 30 patients(51.7%).Among the 39 pathogenic genes,18 genes(46.2%)were autosomal dominant,15 genes(38.5%)were autosomal recessive,four genes(10.3%)were X-linked recessive,and two genes(5.1%)were copy number variants.The proportion of congenital heart disease in positive gene test group was higher than that in negative gene test group(32.4%vs.8.3%,χ^(2)=4.668,P=0.031),while there was no statistical difference in other clinical features(P>0.05).There was no significant difference in clinical characteristics between the positive gene test group and the negative gene test group among the death children(P>0.05).Among 58 cases,39 cases(67.2%)resulted in death,and the positive rate of genetic disease diagnosis of the dead children was 66.7%(26/39).The mortality rate of children with positive genetic test was 76.5%(26/34),22 cases(84.7%)died directly from genetic diseases,and four cases died indirectly.Conclusion Genetic diseases are one of the important causes of death among children in PICU.The clinical characteristics of childre

关 键 词：基因检测 病因不明 危重症 儿童重症监护病房 

分 类 号：R72[医药卫生—儿科]