妇儿健康导刊2025，Vol.4Issue(22)：123-126,4.DOI:10.3969/j.issn.2097-115X.2025.22.024
不同检测方法在高苯丙氨酸血症筛查中的应用
Application of different detection methods in screening for hyper-phenylalaninemia
摘要
Abstract
Objective To explore the application effect of fluorescence analysis(FA)and tandem mass spectrometry(MSMS)in screening for hyperphenylalaninemia(HPA)and provide a basis for the selection of screening methods for HPA.Methods From January 1,2017 to December 31,2023,64 364 newborns in Neonatal Screening Center,Jilin Women and Children Health Hospital were tested for blood phenylalanine(Phe)concentration using FA and MSMS.The cases with positive results from FA and/or MSMS were confirmed through urinary pterin spectrum analysis,dihydropteridine reductase activity measurement,and whole exome gene sequencing.The Pearson test and Bland-Altman analysis were used to explore the correlation and consistency between the two methods.Results Among 64 364 newborns,146 and 60 cases were suspected positive by FA and MSMS,respectively,31 cases were confirmed of HPA,and both were detected by the two methods.The Pearson test showed a good positive correlation between the two methods(P<0.05).Bland-Altman analysis was conducted using Phe measurement values at different concentrations,and the results showed good consistency between the two methods(P<0.05).Conclusion There is a good correlation and consistency between FA and MSMS.The children with HPA screened by FA are not missed in MSMS,and both methods can be used for screening HPA in newborns.关键词
荧光分析法/串联质谱法/高苯丙氨酸血症Key words
Fluorescence analysis/Tandem mass spectrometry/Hyperphenylalaninemia分类
医药卫生引用本文复制引用
郝鹏锴,郑春玲,滕晓宇,朱颖杰,王兵,董砚,王媛,徐月..不同检测方法在高苯丙氨酸血症筛查中的应用[J].妇儿健康导刊,2025,4(22):123-126,4.基金项目
吉林省卫生健康科技能力提升项目(2023GW003). （2023GW003）
