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目的分析成都市近20年新生儿苯丙酮尿症(PKU)疾病筛查结果。方法回顾分析1992—2011年成都市新生儿PKU筛查资料。结果 20年间成都市活产2 055 244例,筛查1 119 874例;PKU筛查率从1992年的2.58%增加至2011年的97.56%。初筛阳性儿召回3863例(86.59%),确诊50例,检出率为4.47/105(1∶22 397);其中轻度PKU 7例,检出率为6.25/106(1∶159 982);经典型PKU40例,检出率为3.57/105(1∶27 996);非典型PKU 3例,检出率0.27/105(1∶373 291)。结论成都市近20年PKU筛查率逐年增高;可疑患儿初筛阳性召回率也不断提高。成都市PKU检出率低于全国平均水平。
Objective To analyze the screening results of neonatal phenylketonuria (PKU) in Chengdu in the past 20 years. Methods Retrospective analysis of 1992-2011 neonatal PKU screening data. Results The number of live births was 2 055 244 and 11 119 874 in Chengdu in 20 years. The screening rate of PKU increased from 2.58% in 1992 to 97.56% in 2011. 3863 cases (86.59%) were positive for primary screening, and 50 cases were diagnosed. The detection rate was 4.47 / 105 (1:22 397), of which 7 were mild PKU with a detection rate of 6.25 / 106 (1:159882) ; Classic PKU 40 cases, the detection rate was 3.57 / 105 (1:27 996); atypical PKU 3 cases, the detection rate was 0.27 / 105 (1:373 291). Conclusion The screening rate of PKU in Chengdu has increased year by year in recent 20 years. The positive recall rate of primary screening in suspicious children also increased continuously. Chengdu PKU detection rate lower than the national average.