2008-2014年江苏省盐城市新生儿苯丙酮尿症筛查结果分析

Analysis on the screening results of neonatal phenylketonuria in Yancheng city of Jiangsu province from 2008 to 2014

目的回顾盐城市近6年苯丙酮尿症（Phenylketonuria，PKU）筛查情况，总结盐城地区PKU的发病情况，指导今后筛查工作。方法标本来源于江苏省盐城市妇幼保健院，采集出生3～7d新生儿的足跟血制成千滤纸血片，采用化学荧光定量法检测血片中Phe的含量，Phe≥1．8mg／dl的可疑阳性进一步做确诊验证并鉴别分型。结果近6年来，盐城市妇幼保健院筛查新生儿515339例，确诊PKU患儿68例，其中辅酶四氢生物蝶呤（tetrahydrobiopterin，BH4）缺乏型8例，PKU的发病率为1：7578。结论盐城市6年来PKU的筛查率逐年提高，发病率高于全国平均水平，今后的筛查工作任务繁重。

Objective To retrospectively analyze the screening results of neonatal phenylketonuria （PKU） in Yancheng city of Jiangsu province from 2008 to 2014, summarize the prevalence of PKU in Yancheng, and direct the future screening. Methods The dried blood spot samples of neonatal heel blood during 3-7 days after birth were collected from the hospital, chemical fluorescence quantitative method was used to detect the concentrations of phenylalanine （Phe）, the suspected neonates with Phe≥1.8 mg/dL underwent further de- tection for definite diagnosis and the types were determined. Results From 2008 to 2014, 515 339 neonates were screened in the hospital, 68 neonates were diagnosed as PKU definitely, and 8 neonates were tetrahydrobiopterin （BH4） deficiency type, the incidence rate of PKU was 1 ： 7 578. Conclusion The screening rate of PKU from 2008 to 2014 in Yancheng city increased year by year, the incidence rate of PKU was higher than the national average level, the future screening work will be arduous.