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目的探讨甘肃省新生儿疾病筛查中心实验室串联质谱法高苯丙氨酸血症(hyperhenylalaninemia,HPA)筛查切值。方法对2015年1月~2016年12月间,甘肃省各州市送往甘肃省新筛中心实验室进行串联质谱法新生儿疾病筛查的干血斑样本实验数据进行统计分析。结果共筛查65 535例新生儿干血斑样本,Phe浓度和Phe/Tyr比值分布呈正态分布,确诊HPA患儿33例,制定出适合我实验室串联质谱法高苯丙氨酸血症筛查的Phe浓度切值为1.8mg/d L,Phe/Tyr切值为1.5。结论我实验室制定的串联质谱法Phe浓度、Phe/Tyr比值参考切值在甘肃地区的新生儿HPA筛查中具有可行性,能为今后大规模开展串联质谱法筛查HPA提高依据。
Objective To investigate the cut-off value of hyperhenylalaninemia (HPA) in laboratory of neonatal screening center in Gansu province. Methods From January 2015 to December 2016, the experimental data of dry blood spots samples from neonates screening for neonatal diseases by tandem mass spectrometry were sent to Gansu Provincial New Screen Center Laboratory of Gansu Province for statistical analysis. Results A total of 65 535 newborn blood spot samples were screened. The distributions of Phe concentration and Phe / Tyr ratio were normal distribution. 33 children with HPA were diagnosed, and the best one was suitable for my laboratory tandem mass spectrometry hyperphenylalaninemia Screening Phe concentration cut value of 1.8mg / dL, Phe / Tyr cut value of 1.5. Conclusion Our laboratory established the tandem mass spectrometry Phe concentration, Phe / Tyr ratio reference cut value in neonatal HPA screening in Gansu is feasible, for large-scale tandem mass spectrometry screening HPA basis for the future.