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目的:了解长春地区新生儿苯丙酮尿症(PKU)荧光法筛查结果。方法:对长春地区出生的新生儿259 716例采集出生48~72 h充分哺乳后的足跟血滤纸片标本,以荧光法测定新生儿滤纸干血斑苯丙氨酸(Phe)含量。凡Phe≥120μmol/L者为实验阳性,则召回婴儿取第二张血纸片标本进行复查。结果:259 716例标本中,初次筛查检出阳性138例,Phe浓度在120~1 740μmol/L之间。132例已复查,46例结果仍为阳性,其余均正常。长春地区苯丙酮尿症发病率为1/5 646。结论:长春地区苯丙酮尿症发病率为1/5646,比全国平均水平1/11 307高。
Objective: To understand the screening results of neonatal phenylketonuria (PKU) fluorometry in Changchun area. Methods: A total of 259 716 newborns born in Changchun region were collected from 48 to 72 h after birth and then the heel hemostatic filter paper samples were collected. The content of phenylalanine (Phe) in neonatal filter paper was determined by fluorescence method. Where Phe≥120μmol / L were positive for the experiment, the baby was recalled to take a second blood paper specimens for review. Results: Of the 259 716 specimens, 138 were positive at initial screening, with a Phe concentration of 120-1 740 μmol / L. 132 cases have been reviewed, 46 cases were still positive, the rest were normal. The incidence of phenylketonuria in Changchun is 1/5 646. Conclusion: The prevalence of phenylketonuria in Changchun is 1/5646, which is higher than the national average of 1/11307.