3例CYBB基因新突变导致的慢性肉芽肿病新生儿的临床分析  

Analysis of 3 neonates with chronic granulomatous disease caused by new mutations in the CYBB gene

作　　者：黄丽莲[1,3] 陈洁琳 李英乔 庞夏玲[1,3] 谭杰 黄惠萍 冯燕华[1,3] 覃敏 罗静思[2,3] HUANG Lilian;CHEN Jielin;LI Yingqiao;PANG Xialing;TAN Jie;HUANG Huiping;FENG Yanhua;QIN Min;LUO Jingsi(Department of Pediatric Respiratory Medicine,Maternal and Child Health Care of Guangxi Zhuang Autonomous Region,Nanning 530003,Guangxi,China;Genetic Metabolism Center Laboratory,Maternal and Child Health Care of Guangxi Zhuang Autonomous Region,Nanning 530003,Guangxi,China;Guangxi Clinical Research Center for Pediatric Diseases,Nanning 530003,Guangxi,China)

机构地区：[1]广西壮族自治区妇幼保健院儿童呼吸内科,南宁市530003 [2]广西壮族自治区妇幼保健院遗传代谢中心实验室,南宁市530003 [3]广西儿科疾病临床医学研究中心,南宁市530003

出　　处：《内科》2023年第5期419-422,430,共5页Internal Medicine

基　　金：广西壮族自治区卫生和计划生育委员会计划课题(Z20180085)。

摘　　要：目的探讨CYBB基因新突变导致的慢性肉芽肿病(CGD)患儿的临床特点。方法对2020年11月至2021年12月在广西壮族自治区妇幼保健院诊断的3例CYBB基因突变导致的CGD患儿的临床资料进行总结和分析。结果3例患儿均为男孩,均在新生儿期发病;入院时均需呼吸机辅助通气,临床表现均有发热、咳嗽、气促和呼吸困难;血常规检测白细胞计数均升高[(17.30~30.51)×10^(9)个/L],均以中性粒细胞计数升高为主,C反应蛋白水平均显著升高[(75.16~102.56)mg/L];均感染曲霉菌,肺部CT均可见多发结节影和团块状高密度影。3例患儿均为CYBB基因突变,母亲均为携带者,例1是CYBB基因c.984_993delGTGCCCAAAG,例2是CYBB基因c.1713A>C,例3是CYBB基因c.1462-1G>A。根据美国医学遗传学与基因组学学会和分子病理学协会变异评估指南,3种突变均为致病性,且在ClinVar数据库、dbSNP数据库中均未见报告。3例患儿预后为1例死亡、2例存活。结论c.984_993delGTGCCCAAAG、c.1713A>C、c.1462-1G>A均是CYBB基因的新突变位点,可导致CGD,且患儿在新生儿期发病,病情重,预后不良。Objective To investigate the clinical features of children with chronic granulomatous disease(CGD)caused by new mutations in the CYBB gene.Methods The clinical data of 3 children with CGD caused by new mutations in the CYBB gene diagnosed in Maternal and Child Health Care of Guangxi Zhuang Autonomous Region from November 2020 to December 2021 were summarized and analyzed.Results All 3 children were boys,with the onset of CGD in the neonatal period,needing ventilator-assisted ventilation on admission and manifestating fever,cough,shortness of breath,and dyspnea.Their blood routine test showed an elevated white blood cells count[(17.30~30.51)×10^(9)/L],most of which was neutrophil,and an significantly increased C-reactive protein level[(75.16~102.56)mg/L].The 3 children were infected with Aspergillus and had multiple nodular opacities and lumpy high-density opacities on the pulmonary CT.They all had CYBB gene mutations,whose mothers were carriers,among which case 1 had CYBB gene c.984_993delGTGCCCAAAG,case 2 had CYBB gene c.1713A>C,and case 3 had CYBB gene c.1462-1G>A.According to the variant interpretation guidelines developed by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology,the 3 mutations were pathogenic and had not been reported in the ClinVar database or dbSNP database.The clinical outcome was 1 child died and 2 children survived.Conclusion c.984_993delGTGCCCAAAG,c.1713A>C,and c.1462-1G>A are new mutation sites of the CYBB gene,which can lead to CGD.The neonatal-onset CGD is severe and the clinical outcome is poor.

关 键 词：慢性肉芽肿病 CYBB基因 新生儿 突变位点 

分 类 号：R722[医药卫生—儿科]