邵阳地区94648名新生儿遗传代谢病串联质谱筛查结果分析  

Analysis of 94648 newborn inherited metabolic disorders screening by tandem mass spectrometry in the Shaoyang district

作　　者：周慕平 邓礼元 黄艳 肖瑛 文君 刘娜 张华 胡娟 曾映超 鄢慧明 ZHOU Muping;DENG Liyuan;HUANG Yan;XIAO Ying;WEN Jun;LIU Na;ZHANG Hua;HU Juan;ZENG Yingchao;YAN Huiming(Department of Clinical Laboratory,the Maternal and Child Health Hospital of Shaoyang City,Hu'nan,Shaoyang,422001,China;Department of Pediatric,theMaternal and Child Health Hospital of Shaoyang City,Hu'nan,Shaoyang,422001,China;Scientific Education Section,the Maternal and Child Health Hospital of Shaoyang City,Hu'nan,Shaoyang,422001,China;Neonatal Disease ScreeningManagement Center,theMaternal and Child Health Hospital of Shaoyang City,Hu'nan,Shaoyang,422001,China;Medical Genetic Center,Hu'nan Provincial Maternal and Child Health Care Hospital,Hu'nan,Changsha,410008,China)

机构地区：[1]邵阳市妇幼保健院/邵阳市妇女儿童医院检验科,湖南邵阳422001 [2]邵阳市妇幼保健院/邵阳市妇女儿童医院儿科,湖南邵阳422001 [3]邵阳市妇幼保健院/邵阳市妇女儿童医院科教科,湖南邵阳422001 [4]邵阳市妇幼保健院/邵阳市妇女儿童医院新生儿疾病筛查管理中心,湖南邵阳422001 [5]湖南省妇幼保健院医学遗传中心,湖南长沙410008

出　　处：《当代医学》2023年第13期1-6,共6页Contemporary Medicine

基　　金：邵阳市2020年科技计划(2020NS37)。

摘　　要：目的研究邵阳地区近5年新生儿遗传代谢病发病情况,为该地区出生缺陷三级防控提供参考依据。方法回顾性分析2016年6月至2020年12月邵阳地区设置产科的医院和乡镇卫生院中分娩出生的94648名活产新生儿的临床资料。分析新生儿遗传代谢病筛查情况、发病率、基因诊断结果及各病种异常指标及浓度,分析串联质谱新生儿遗传代谢病筛查项目社会效益。结果共计筛查邵阳地区新生儿94648名,其中初筛阳性1988例,召回率2.10%;确诊23例(男10例,女13例),其中1例发现希特林蛋白缺乏症、瓜氨酸血症Ⅰ型相关基因突变位点,总发病率为1∶4115。确诊新生儿遗传代谢病10种,其中氨基酸代谢类疾病14例,占比60.87%,发病率为1∶6761;有机酸代谢病3例,占比13.04%,发病率为1∶31549;脂肪酸氧化代谢类疾病7例,占比30.43%,发病率为1∶13521;其中疾病发病率最高的分别是高苯丙氨酸血症、原发性肉碱缺乏症、希特林蛋白缺乏症。23例阳性病例样本基因中高苯丙氨酸血症、原发性肉碱缺乏症等疾病突变位点相对较多,希特林蛋白缺乏症常见突变位点c.852-855del集中出现,占比为5/8。除1例希特林蛋白缺乏症初筛CIT为阴性,其余病例初筛异常指标均大于参考范围。邵阳地区串联质谱遗传代谢病筛查5年所创造的社会效益为13833.74万元。结论遗传代谢病在邵阳地区人群中存在较高发病率,且疾病种类较多,应用串联质谱技术进行新生儿遗传代谢病筛查效果显著,可实现早发现、早治疗的目的,从而避免患儿发生不可逆性的生长及智力发育障碍,提高人口素质。Objective To investigate the incidence of newborn inherited metabolic diseases in the Shaoyang district in recent five years and to provide the reference for three-level prevention of birth defects in this district.Methods The clinical data of 94648 live newborn in hospitals and township health centers with obstetric departments in Shaoyang district from June 2016 to December 2020 were retrospectively analyzed.The screening status,incidence,genetic diagnosis results,abnormal indexes and concentrations of newborn genetic metabolic diseases were analyzed,and the social benefits of newborn genetic metabolic disease screening project were analyzed by tandem mass spectrometry.Results 94648 newborns were screened in Shaoyang district,of which 1988 cases were positive,with the recall rate of 2.10%,23 cases(10 males and 13 females)were diagnosed,of which 1 case was found to have citrin deficiency and citrullinemia typeⅠrelated gene mutations,with total incidence of 1∶4115.There were 10 kinds of newborn genetic metabolic diseases,including 14 cases of amino acid metabolic diseases,accounting for 60.87%,and the incidence was 1∶6761;there were 3 cases of organic acid metabolic disease,accounting for 13.04%,and the incidence was 1∶31549;there were 7 cases of fatty acid oxidative metabolism disease for 30.43%,and the incidence was 1∶13521.The highest incidence of diseases were Hyperphenylalaninemia,Primary carnitine deficiency and Citrin deficiency.There were relatively many disease mutation sites such as Hyperphenylalaninemia and Primary carnitine deficiency in the gene of 23 positive cases,and the common mutation site c.852-855del in Citrin deficiency was concentrated,accounting for 5/8.Except for 1 case of Citrin deficiency whose CIT was negative in the initial screening,the abnormal indicators of the remaining cases>the reference range.Tandem mass spectrometry genetic metabolic disease screening in Shaoyang district created 13833.74 million yuan of social benefits in 5 years.Conclusion Inborn errors of metabolis

关 键 词：新生儿 遗传代谢病 串联质谱 筛查 

分 类 号：R722.1[医药卫生—儿科]