串联质谱技术在徐州地区新生儿遗传代谢病筛查中的临床应用
The clinical application of tandem mass spectrometry for newborn screening in Xuzhou
周伟 1王传霞 1李惠中 1顾茂胜1
作者信息
- 1. 221009,徐州市妇幼保健院医学遗传中心
- 折叠
摘要
目的 研究串联质谱技术在徐州地区新生儿遗传代谢疾病筛查应用过程中发生的情况.方法 选取2015年1 1月1日～2017年7月31日在徐州市妇幼保健院165 262例新生儿,应用串联质谱技术(tandem mass spectrometry,MSMS)进行遗传代谢性疾病的筛查.结果 165 262例新生儿中94例确诊为先天性遗传代谢病,阳性率为1∶1758.病种依次为:肉碱吸收障碍17例(其中5例确诊为母源性肉碱吸收障碍),甲基丙二酸血症12例(其中3例已死亡),戊二酸血症I型1例,苯丙酮尿症52例等.结论 串联质谱技术用于分析代谢物质浓度水平,可应用于遗传性代谢病进行筛查,有助于早期诊断及治疗.
Abstract
Objective To investigate the application of tandem mass spectrometry in screening of newborn genetic metabolic disease in Xuzhou.Methods Tandem mass spectrometry (MSMS) was used to test 165 262 infants born in Xuzhou Maternal and Child Health Hospital from November 1,2015 to July 31,2017.Results 94 out of 165 262 infants were diagnosed with congenitally inherited metabolic diseases,and the positive rate was 1:1758.Conclusion Tandem mass spectrometry (MSMS) through analysis of the concentration of metabolic substances can be used for screening hereditary metabolic diseases,and has an important significance in Xuzhou.
关键词
串联质谱技术/新生儿遗传代谢病/徐州地区Key words
Tandem mass spectrometry (MSMS)/Screening of newborn genetic metabolic disease/Xuzhou引用本文复制引用
出版年
2018
NETL
NSTL
维普
万方数据