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目的了解本地区的新生儿高苯丙氨酸血症(HPA)静脉血片筛查中的苯丙氨酸(Phe)水平分布,并探讨Phe切值建立。方法 2011年1月~2015年6月选择本地户籍174 140例新生儿,采集静脉血制成滤纸干血片,检测Phe浓度进行HPA筛查,根据筛查结果用百分位数法统计初步确立Phe切值。结果 174 140例新生儿经筛查正常新生儿174 133例,HPA阳性患儿7例,正常新生儿中,无浓度值者4411例,有浓度值者169 722例,有浓度值人群的Phe浓度水平呈偏态分布,其P50、P99、P99分别为1.02mg/d L,1.55mg/d L、1.86mg/d L,初步将静脉血片筛查实验Phe切值定为1.86mg/d L,通过评价,依据本中心实验筛查切值的要求,最终确定本中心静脉血片常规筛查实验Phe切值为1.86 mg/d L,同时,认为本中心所用足跟未稍血片的Phe切值,也可以作为静脉血片的Phe切值使用。结论静脉血片中的Phe比足跟未稍血片稳定,建立合理的静脉血片筛查Phe实验切值,有利于用静脉血片进行新生儿HPA筛查提供客观的参考依据。
Objective To investigate the distribution of phenylalanine (Phe) in the screening of neonatal hyperphenylalaninemia (HPA) venous blood samples in the region and to explore the establishment of the cut-off value of Phe. Methods From January 2011 to June 2015, 174 140 newborns were selected from the local household. Blood samples were obtained from dried venous blood by filter paper filter. The concentration of Phe was detected by HPA screening and preliminarily established by the method of percentile based on the screening results Phe cut value. Results A total of 174 140 newborns were screened for 174 133 normal newborns and 7 HPA positive children. Among the normal newborns, 4411 had no concentration, and 169 722 had a concentration of 169.722. The concentration of Phe P50, P99 and P99 were 1.02mg / dL, 1.55mg / dL and 1.86mg / dL, respectively. The initial value of Phe cut-off value of the venous blood screening screening test was 1.86mg / dL , Through evaluation, based on the requirements of the center of the experimental screening cut value, the center routine venous blood routine screening test to determine the final Phe cut-off value of 1.86 mg / dL, at the same time, Cut value, can also be used as venous blood Phe cut-off value. Conclusion The Phe in venous blood is more stable than that of heel without hemacytoma, and the establishment of a reasonable value of Phe for screening of venous blood is helpful to provide an objective reference for the screening of neonatal HPA with venous blood.