串联质谱法新生儿高苯丙氨酸血症筛查的切值探讨

Tandem mass spectrometry of neonatal phenylalanine high cutting value of hematic disease screening

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 explore newborn disease screening center laboratory tandem mass spectrometry in gansu province hyperhenylalaninemia （HPA） screening cutting value. Methods： On from January 2015 to December 2016, between each state to gansu province, gansu province new screen center lab for tandem mass spectrometry of neonatal disease screening dried blood sample experimental data for statistical analysis. Results： 65 535 cases of neonatal screening dried blood samples, Phe concentration distribution and Phe/Tyr ratio normally distributed, 33 cases confirmed HPA, tandem mass spectrometry to develop a suitable for my laboratory high blood phenylalanine Phe concentration screening cut a value of 1.8 mg/dL, Phe/Tyr cutting value of 1.5. Conclusion： My laboratory of tandem mass spectrometry, Phe and PheiTyr ratio cut reference values of HPA in gansu regions has feasibility in the screening, mass in tandem mass spectrometry for future screening HPA improve basis.