徐州市新生儿苯丙酮尿症筛查结果分析

目的通过对苯丙酮尿症(PKU)的筛查,了解徐州市遗传性代谢病苯丙酮尿症的发病情况及临床类型。方法取出生72h后并喂足高蛋白奶6次以上的新生儿足跟末梢血,应用荧光定量法测定血苯丙氨酸(phe)水平。且对2003年1月至2010年9月徐州市新生儿疾病筛查资料进行回顾分析。结果 6年间徐州市活产969 144例,筛查762 141例,总筛查率为78.6%;筛出可疑苯丙酮尿症556例,复诊533例,复诊率为95.9%;确诊96例,其中经典型PKU 39例,中度PKU 36例,轻度高苯丙氨酸血症17例,四氢生物喋呤(BH4)缺乏症4例。PKU发病率为1∶7938;治疗率为95.83%。结论徐州市6年PKU筛查率及可疑患者复诊率逐年提高;PKU发病率和治疗率高于全国平均水平。

Results analysis on neonatal screening for phenylketonuria in Xuzhou City

Objective To analyze the results of screening for neonatal phenylketonuria（PKU）in Xuzhou City.Methods The screening for neonatal PKU was conducted among 762 141 new borns in Xuzhou City.Peripheral heel blood specimens were collected with in 72h after birth with 6 times intakes of high protein milk and the specimens were dried on S S903 filter papers.Phenylalanine（Phe）levels were determined quantitatively with Perkin Elmer Neonatal Fluorometric PKU kits.The data of neonatal screening in Xuzhou from January 2003 to September 2010 were analyzed retrospectively.Results There were 969 144 live births and 762 141（78.6%）of them received screening test for PKU.Among them,556 cases with positive results were suspected of PKU and 533（95.9 %）were recalled to take diagnostic test.There were 96 cases diagnosed as PKU,and 39 were classic PKU,36 eere Moderate PKU,17 were mild hyperphenylalainmia,4 cases were diagnosed as tetrahydrobioperin deficiency（BH4D）.The prevalence of PKU was 1/7938.The rate of receiving treatment was 95.83%.Conclusion The neonatal screening and recall rate is increasing gradually during the recent six years.Both the PKU prevalence and the rate of receiving treatment in Xuzhou is higher than the national average level.