【摘要】 目的 探讨荧光分析法（FA）和串联质谱法（MSMS）在高苯丙氨酸血症（HPA）筛查中的应用效果，为HPA筛查方法选择提供依据。方法 对2017年1月1日至2023年12月31日吉林省妇幼保健院新生儿筛查中心的64 364例新生儿使用FA联合MSMS检测血苯丙氨酸（Phe）浓度，对FA和/或MSMS复筛阳性的病例行尿蝶呤谱分析、血二氢蝶啶还原酶活性测定和全外显子基因测序进行确诊，采用Pearson检验、BlandAltman一致性分析探讨两种方法的相关性和一致性。结果 64 364例新生儿中，FA和MSMS初筛可疑阳性分别为146例和60例，确诊HPA 31例，均在两种方法中被检出。Pearson检验显示，两种方法的正向相关性较好（P<0.05）。以不同浓度的Phe测定值作Bland-Altman分析，结果显示两种方法有较好的一致性（P<0.05）。结论 FA和MSMS有较好的相关性和一致性，FA筛查出的HPA患儿在MSMS筛查中均未遗漏，两种方法均可用于新生儿HPA的筛查。更多还原

【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 BlandAltman 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.更多还原