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目的对贵州省2008年-2011年间出生的1281934例新生儿PKU筛查结果进行分析,探讨PKU发病情况和发病率。方法以2008年1月-2011年12月在贵州省新筛中心网络医院出生的新生儿1281934例作为研究对象。在出生后72h采足跟血,用时间分辨荧光免疫分析法检测血中苯丙氨酸(Phe)的水平。结果贵州省1281934例新生儿中,确诊PKU 9例,发病率为1∶142 437。其中男婴5例,女婴4例,男女之比约1.25∶1;各年度间的发病率比较差异无统计学意义(χ2=0.97,P>0.05);各地区间的发病率比较差异无统计学意义(χ2=3.45,P>0.05)。结论新生儿疾病筛查是早发现、早诊断、早治疗PKU的重要措施,是防止儿童智力低下或疾病伤残,提高人口素质的一种有效方法。
Objective To analyze the PKU screening results of 1,281,934 newborns born in Guizhou Province from 2008 to 2011 and discuss the incidence and incidence of PKU. Methods From January 2008 to December 2011, 1,281,934 newborns were born in the New Screen Center Network Hospital of Guizhou Province. Blood was collected 72 h after birth and the level of phenylalanine (Phe) was measured by time-resolved fluorescence immunoassay. Results Among the 1,281,934 newborns in Guizhou Province, 9 cases were diagnosed with PKU, the incidence rate was 1:142 437. Among them, 5 were male babies and 4 were female babies. The ratio of men to women was about 1.25: 1. There was no significant difference in the incidence rates between years (χ2 = 0.97, P> 0.05). There was no significant difference in incidence among different regions Significance (χ2 = 3.45, P> 0.05). Conclusion Neonatal disease screening is an important measure to detect early, early diagnosis and early treatment of PKU. It is an effective way to prevent mental retardation or disability in children and improve population quality.