应用荧光法筛查吉林地区新生儿苯丙酮尿症

Screening Jilin city's neonatal phenylketonuria by fluorescent assay

目的了解吉林地区新生儿苯丙酮尿症（phenylketonuria，PKU）的发病情况。方法本地区出生的新生儿27509例，取出生48～72h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，凡苯丙氨酸≥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27509例标本中，初次筛查检出7例阳性结果，其浓度在121～1740μmol／L之间，7例已复查，3例结果仍为阳性，其余均正常，吉林地区苯丙酮尿症发生率为1／917。结论吉林地区苯丙酮尿症发生率为1／917。

Objective To screen and analysis Jilin city＇s neonatal phenylketonuria（PKU） incidence by fluorescent assay. Methods Heel blood sample was collected from（27509） newborns 48-72 hours after birth and dropped on filter paper for Phe determination by fluorescent assay. The neonates with the results ofPhe 〉 120 μmol/ L were diagnosed to be positive and were recalled to test again. Results 7 cases in 27509 cases of specimens were positive with the concentration of 121-1740 μmol/L in the initial screening and 3 cases remained to be positive in the secodary test, the rest were normal. Conclusion Jilin city＇s neonatal PKU incidence is 1/917.