【摘要】 【目的】分析北京市近10余年新生儿疾病筛查情况,提供苯丙酮尿症流行病学基础数据。【方法】对1999年1月—2009年6月北京市新生儿疾病筛查资料进行回顾分析。【结果】10余年间北京市活产1192642人,筛查1166218人,筛查率为97.78%;筛出可疑苯丙酮尿症3833人,复诊3403人,复诊率为87.64%;确诊145人,检出率为1.24/104(1∶8064);其中四氢生物喋呤缺乏症13例,检出率1.11/105;PKU治疗率为95.17%。【结论】北京市近10年PKU筛查率及可疑病人复诊率逐年提高;PKU检出率和治疗率高于全国平均水平。更多还原

【Abstract】 【Objective】 To describe the epidemiology characteristics of the of phenylketonuria(PKU). 【Method】 The datas of neonatal screening in Beijing from January 1999 to June 2009 were analyzed retrospectively. 【Results】 There were 1 192 642 live birth and 1 166 218(97.78%)of them received screening test for PKU.Among them,3 833 with positive results and 3 403(87.64%) were recalled to take diagnostic test.There were 145 cases diagnosed as PKU.The prevalence was 1.24/104(1∶8 046).Thirteen of them were diagnosed as tetrahydrobiopterin deficiency(BH4D) and its prevalence was 1.11/105. 【Conclusions】 The neonatal screening and recall rate is increasing stably during the recent 10 years.Both the PKU prevalence and the rate of receiving treatment in Beijing is higher than the national average level.更多还原