非衍生化串联质谱技术筛查上海部分地区新生儿遗传代谢病的回顾性分析  

A retrospective analysis of newborn screening of inherited metabolic diseases by non-derivatized tandem mass spectrometry in some areas of Shanghai

作　　者：田国力[1] 王燕敏[1] 许洪平[1] 周卓[1] 郭静[1] 姚静[1] 

机构地区：[1]上海市儿童医院新生儿筛查中心,上海200040

出　　处：《临床检验杂志》2016年第12期909-912,共4页Chinese Journal of Clinical Laboratory Science

基　　金：上海市第四轮公共卫生三年行动计划重点学科建设项目(15GWZK0401);上海交通大学多学科交叉项目(YG2015QN27)

摘　　要：目的回顾性分析用串联质谱技术筛查新生儿遗传代谢病的可行性和新生儿遗传代谢病的发病率。方法用非衍生化串联质谱技术检测2010年至2016年上海部分地区126 579例新生儿滤纸干血片上11种氨基酸、游离肉碱和30种酰基肉碱,对新生儿进行氨基酸代谢异常、有机酸代谢异常和脂肪酸氧化代谢异常三大类疾病筛查。结果 126 579例新生儿中确诊遗传代谢病26例,包括氨基酸代谢异常13例、有机酸代谢异常7例和脂肪酸氧化代谢异常6例,总发病率为1∶4 869;另确诊2例母源性原发性肉碱缺乏症和1例母源性3-甲基巴豆酰辅酶A羧化酶缺乏症。结论非衍生化串联质谱技术可有效用于新生儿遗传代谢病的筛查和诊断,还可对无症状母亲作出诊断。Objective To analyze retrospectively the feasibility of newborn screening of inherited metabolic diseases（ IMD） by using tandem mass spectrometry and the incidence of IMD in Shanghai area. Methods Eleven kinds of amino acids,free carnitine and 30 kinds of acyl carnitine in the dried blood spots were detected by non-derivatized tandem mass spectrometry so as to screen the abnormity of newborn amino acid,organic acid or fatty acid oxidation metabolism. Results Genetic metabolic diseases were detected in 26 out of126 579 neonates（ 1： 4 869）,including 13 with abnormal amino acid metabolism,7 with abnormal organic acid metabolism and 6 with abnormal fatty acid oxidation metabolism. In addition,2 neonates with maternal carnitine uptake deficiency and 1 with maternal 3-methylcrotonyl-Co A carboxylase deficiency were finally diagnosed. Conclusion The non-derivatized tandem mass spectrometry may be used for the screening and diagnosis of neonatal IMD. Expanded neonatal screening is not only beneficial to newborns,but also to asymptomatic mothers.

关 键 词：串联质谱 非衍生化 新生儿筛查 遗传代谢病 

分 类 号：R446[医药卫生—诊断学]