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【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。
【Objective】 To analyze the screening of neonatal diseases in Beijing over the past 10 years and provide the basic data of epidemiology of phenylketonuria. 【Methods】 The data of neonatal screening in Beijing from January 1999 to June 2009 were retrospectively analyzed. 【Results】 1192642 live births were detected in Beijing in a period of more than 10 years. The screening rate was 97.78%. There were 3833 suspicious phenylketonuria patients and 3403 referrals, the referral rate was 87.64%. 145 confirmed cases were diagnosed The rate was 1.24 / 104 (1:8064). Among them, 13 cases were tetrahydrobiopterin deficiency, the detection rate was 1.11 / 105 and the PKU treatment rate was 95.17%. 【Conclusion】 The screening rate of PKU and the referral rate of suspicious patients in Beijing in recent 10 years have been increasing year by year. The detection rate and treatment rate of PKU are higher than the national average.