化学荧光法筛查苯丙酮尿症的优越性

Superiority for Neonatal Phenyiketenuria Screening by Chemical Fluorometric Enzyme Immunoassay

目的探讨化学荧光法（CFEIA）筛查新生儿苯丙酮尿症（PKU）的优越性和制定本地区苯丙氨酸（Phe）筛查切值。方法应用CFEIA法和细菌抑制法（BIA）检测新生儿滤纸干血片上Phe浓度，筛查PKU。结果正常新生儿Phe频数呈正态分布，99％百分位数为116μmol／L（1．93mg／d1），确定本地区筛查切值为1．90mg／dl，荧光法筛查67040人，确诊PKU11例，（1／6096），BIA筛查194012人，确诊PKU 21例（1／9239），经卡方检验，两法无显著性差异（X^2=1．27，P〉0．05）；荧光法有6例筛查值在切值附近（2．02～3．72mg／d1），经召回复查分别确诊为轻、中型高苯丙氨酸血症和经典型PKU。结论荧光法定量、灵敏、特异性高，资料永久性保存，是国内PKU筛查值得推荐的方法。

Objective To study the superiority of the chemical fluorometric enzyme immunoassay（CFEIA） in screeing neonatal phenyiketenuria （PKU） and determin the out - off point of phenylalanine （Phe） of neonatal screening for PKU. Methods Phe concentration in dried - blood spot specimens on filter paper was detected by the CFELA or bacterial inhibition assay（ BIA）. Restults The Phe frequency of normal neonate shows positively distribution. The cut - off point of Phe of neonatal screening for Phe is 1.90 mg/dl in Lianyungang. No difference was found between CFA and BIA （P〉0.05）. Among 67 040 neonates screened by CFELA, 11 1/6 096 were found to be defective;194 012 neonates screened by BIA, 21 1/9 239 were found to be defective. Conclusion The guantitative CFELA is more sensitive and rapid,and should be a worthy method being recommend for major screening.