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目的:评价化学荧光分析法在大样本新生儿苯丙酮尿症筛查中的作用。方法:应用荧光分析法对江西省2003~2007年新生儿进行苯丙酮尿症(PKU)筛查。结果:①化学荧光法筛查175 231例,检出PKU9例,检出率1/19 470。②血片放置1周内检测与2周后检测Phe的结果分别为(0.950 4±0.287 8)mg/dl和(0.756 2±0.256 4)mg/dl,经t检验P<0.01,有显著性意义。③振荡5 min与振荡10 min、15 min Phe含量分别为(4.918 8±0.509 4)mg/dl、(5.517 5±0.418 4)mg/dl、(5.546 3±0.441 3)mg/dl,经t检验,振荡5 min与振荡10~15 min的Phe含量有显著性差异。结论:化学荧光法是一种稳定、灵敏、定量、快速的检测方法,适合对大样本进行新生儿PKU的筛查。
OBJECTIVE: To evaluate the role of chemiluminescence in the screening of neonatal phenylketonuria in large samples. Methods: Fluorescent analysis was used to screen PKU in neonates from 2003 to 2007 in Jiangxi Province. Results: (1) 175 231 cases were screened by chemiluminescence method, 9 cases of PKU were detected, the detection rate was 1/19 470. (2) The blood test results of Phe after 1 week and 2 weeks were (0.950 4 ± 0.287 8) mg / dl and (0.756 2 ± 0.256 4) mg / dl, respectively, with significant difference significance. (3) The contents of Phe after 5 min of shaking and 10 min of shaking were (4.918 8 ± 0.509 4) mg / dl, (5.517 5 ± 0.418 4) mg / dl and (5.546 3 ± 0.441 3) mg / Test, oscillation 5 min and oscillation 10 ~ 15 min Phe content was significantly different. Conclusion: Chemiluminescence method is a stable, sensitive, quantitative and rapid detection method, suitable for screening large samples of neonatal PKU.