怀化地区新生儿氨基酸代谢病筛查及随访分析  

Screening for amino acid metabolic diseases of newborns in Huaihua City:prevalence,outcome and follow-up

作　　者：沈玉燕[1] 黎剑[1] 肖刚[1] SHEN Yu-yan;LI Jian;XIAO Gang(Huaihua Maternal and Child Health Care Hospital,Huaihua 418000,Hunan China)

机构地区：[1]怀化市妇幼保健院新筛中心,湖南怀化418000

出　　处：《中国优生与遗传杂志》2018年第10期80-82,共3页Chinese Journal of Birth Health & Heredity

基　　金：湖南省卫生计生委科研计划课题项目资助(B20180294)

摘　　要：目的了解怀化市新生儿氨基酸代谢病的发病率。方法回顾性分析怀化市2015年3月～2018年2月应用串联质谱技术进行筛查的新生儿85 604例,其中男性45 969例,女性39 635例,并对其中确诊的16例新生儿氨基酸代谢病筛查结果及临床表现进行分析。结果在85 604例新生儿中筛查并诊断氨基酸代谢病16例,发病率为1/5350,分别为高苯丙氨酸血症6例(37.5%),高甲硫氨酸血症4例(25%),瓜氨酸血症I型3例(18.75%),希特林蛋白缺乏症2例(12.5%),高脯氨酸血症I型1例(6.25%)。结论怀化市新生儿期高苯丙氨酸血症最常见,其次为高甲硫氨酸血症、瓜氨酸血症I型,希特林蛋白缺乏症,高脯氨酸血症I型。串联质谱技术在氨基酸代谢病早期诊断方面有重要应用价值。Objective：To study the current status of amino acid metabolic diseases neonates in Huaihua. Methods：From March 2015 to February 2018,we collected 85 604（45 969 were males and 39 635 females）screening results of newborns in Huaihua.In the 16 confirmed cases,the analysis of Screening results and clinical manifestations was performed. Results：In the 85 604 cases,16 cases of them were diagnosed to be amino acid metabolic diseases patients.The prevalence was 1：5350,respectively,6 cases of high phenylalanine hyperlipidemia（37.5%）,4 cases of high methionine acidemia（25%）,3 cases with citrullinemia type Ⅰ（18.75%）,2 cases with citrin deficiency（12.5%）,1 case with Hyperprolinemia Type Ⅰ（6.25%）. Conclusion：In neonatal period,high phenylalanine hyperlipidemia is the most common disease,followed by high methionine acidemia,citrullinemia typeⅠ,citrin deficiency and Hyperprolinemia TypeⅠ. There was important application value of tandem mass spectrometry technology in early diagnosis of amino acid diseases.

关 键 词：氨基酸代谢病 筛查 新生儿 

分 类 号：R722.1[医药卫生—儿科]