59万新生儿苯丙酮尿症筛查的回顾性分析

Aretrospective analysis of 590000 Newborns' screening for phenylketonuria

目的:总结分析苯丙酮尿症(PKU)的筛查与发病情况,避免或减轻该病对患儿体格和智能发育的影响。方法:采用时间分辨荧光免疫法检测滤纸血斑中Phe浓度。结果:筛查591 222例,其中筛查出高Phe的患儿共105例,确诊105例,发病率为1/5 631。结论:宿迁市是PKU的高发区,患儿呈散在分布,扩大筛查范围提高筛查率是发现PKU患儿的唯一有效手段。

Objective Summarize and analyze Phenylketonuria（PKU） screening and incidence,thus can avoid or mitigate the impact of the disease on physical and intelligent development of infants.Methods The concentration of Phe in the blood SpOt of filter paper is measured by time-resolved fluorescence immanoassay.Results 591 222 cases have been screened, in which 105 patients have a high Phe consistency and 105 cases have been made a definite diagnosis,with the incidence rate of 1/5 631 .Conclusion Suqian city is the high incidence area of PKU and the patients are scattered over a wide area.The only effective method to discover the children with PKU is to expand the screening range and improve the screening rate.