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目的:总结长春市新生儿疾病筛查中心2004年10月~2013年10月高苯丙氨酸血症(HPA)的筛查情况和发病率。方法:选取2004年10月~2013年10月长春地区接受HPA筛查的356 697例新生儿为调查对象,在其出生72 h且喂足8次饱奶后采集血标本,制成滤纸干血片,采用荧光定量法检测干血片中的苯丙氨酸(Phe)浓度。结果:在召回复查的794例可疑阳性新生儿中检出HPA 78例,发病率为2.19/万,其中轻度25例、苯丙酮尿症(PKU)49例、四氢生物蝶呤(BH4)缺乏症4例。结论:长春地区HPA发病率高于全国平均水平,新生儿疾病筛查是早期发现患儿的唯一途径,因此要进一步提高筛查率及可疑阳性新生儿的召回率,做到早发现、早诊断和早治疗,避免出现伤残儿,切实提高长春地区出生人口素质。
OBJECTIVE: To summarize the screening and incidence of hyperphenylalaninemia (HPA) in Changchun Newborn Disease Screening Center from October 2004 to October 2013. Methods: A total of 356 697 neonates undergoing HPA screening in Changchun area from October 2004 to October 2013 were enrolled in this study. Blood samples were taken after 72 h of birth and 8 full nourishes to make dried filter paper The fluorescence quantitative method was used to detect the concentration of phenylalanine (Phe) in the dried blood tablets. Results: 78 cases of HPA were detected in 794 suspicious positive neonates. The incidence was 2.19 / 000, of which 25 were mild, 49 in PKU, 49 in BHU, Deficiency in 4 cases. Conclusion: The prevalence of HPA in Changchun area is higher than the national average level. Neonatal screening is the only way to find out the children in early stage. Therefore, to further improve the screening rate and the recall rate of suspected positive neonates, early detection and early diagnosis Early treatment and avoid disability, and effectively improve the quality of birth in Changchun area.