珠海地区20364例新生儿遗传代谢病筛查结果分析  

Analysis of 20364 newborn screening results of inherited metabolic diseases in Zhuhai area

作　　者：周心怡 林萃[1] 吕晓萍[1] 谭功军 汪国庆[1] ZHOU Xinyi;LIN Cui;LYU Xiaoping;TAN Gongjun;WANG Guoqing(Department of Medical Genetics and Prenatal Diagnosis,Zhuhai Maternal and Child Health Hospital,Zhuhai,Guangdong 519000,China)

机构地区：[1]广东省珠海市妇幼保健院医学遗传与产前诊断科,广东珠海519000

出　　处：《检验医学与临床》2024年第8期1069-1072,1078,共5页Laboratory Medicine and Clinic

基　　金：珠海市社会发展领域科技计划医疗卫生项目(ZH22036201210167PWC)。

摘　　要：目的初步了解并探讨珠海地区新生儿遗传代谢病筛查情况及发病率,为地区性防治出生缺陷提供有效依据。方法选取2021年1月至2022年12月在珠海地区出生的20364例新生儿作为研究对象,进行多种遗传代谢病筛查,对初筛阳性者召回复查,复查仍阳性者进行尿质谱分析和基因检测等明确诊断,统计分析初筛阳性率、总发病率等。结果20364例接受串联质谱筛查的新生儿中,初筛阳性人数687例,初筛阳性率为3.37%;初筛阳性召回人数621例,初筛阳性召回率为90.39%。经召回复查发现70例可疑阳性,筛查阳性率为0.34%,召回阳性率为11.27%,最终确诊7例,总发病率为1/2909。其中,氨基酸代谢病2例(希特林蛋白缺乏症和高甲硫氨酸血症各1例)、脂肪酸代谢障碍4例(原发性肉碱缺乏症2例、中链酰基辅酶A脱氢酶缺乏症和极长链酰基辅酶A脱氢酶缺乏症各1例)、有机酸代谢病(甲基丙二酸血症)1例。7例确诊患儿中有6例进行了基因突变检测,并对其主要标志物及相关指标进行分析,其中氨基酸基因确诊2例,脂肪酸基因确诊3例,有机酸基因确诊1例。结论珠海地区新生儿遗传代谢病总发病率为1/2909,略低于该地区先天性甲状腺功能减低症的发病率(1/1884),但明显高于该地区苯丙酮尿症的发病率(1/33403)。遗传代谢病的早期筛查及少见类型遗传代谢病的检出可为临床尽早诊断和治疗提供更好的时机。Objective To preliminarily understand and explore the screening status and incidence of neonatal inherited metabolic diseases and its incidence in Zhuhai area and to provide effective bases for regional prevention and treatment of birth defects.Methods A total of 20364 newborns born in Zhuhai from January 2021 to December 2022 were selected as the research subjects,and a variety of inherited metabolic diseases were screened.Those with positive initial screening results were recalled for re-examination,and those with positive re-examination results were further diagnosed by urine mass spectrometry and genetic testing.The positive rate of initial screening and total incidence were statistically analyzed.Results Among 20364 newborns who underwent tandem mass spectrometry screening,687 were positive in the initial screening,with a positive rate of 3.37%.The number of positive recall was 621,and the positive recall rate was 90.39%,and 70 suspected positive cases were detected by recall retesting,the screening positive rate was 0.34%,the recall positive rate was 11.27%,and 7 cases were finally diagnosed,the total incidence rate was 1/2909.There were 2 cases of amino acid metabolism disorders(citrin protein deficiency and hypermethioninemia in 1 case each),4 cases of fatty acid metabolism disorders(primary carnitine deficiency in 2 cases,medium-chain acyl-coa dehydrogenase deficiency in 1 case,and very long-chain acyl-coa dehydrogenase deficiency in 1 case),and 1 case of organic acid metabolism disorders(methylmalonic acidemia).Gene mutation detection was performed in 6 of the 7 confirmed children,and the main markers and related indicators were analyzed,and 2 cases were confirmed by amino acid gene,3 cases by fatty acid gene and 1 case by organic acid gene.Conclusion The total incidence rate of inborn errors of metabolism in Zhuhai was 1/2909,which was slightly lower than that of congenital hypothyroidism(1/1884),but significantly higher than that of phenylketonuria(1/33403).Early screening of inborn errors of metaboli

关 键 词：新生儿 遗传代谢病 串联质谱法 阳性率 早期筛查 

分 类 号：R394[医药卫生—医学遗传学]