2001—2019年潍坊地区新生儿苯丙酮尿症筛查回顾性分析

Retrospective analysis of newborn screening for phenylketonuria in Weifang area from 2001 to 2019

目的为了解潍坊地区新生儿苯丙酮尿症筛查率、发病率、治疗方法和干预效果,以及苯丙酮尿症患儿病因学调查。方法各级采血机构按照技术规范要求采集符合标准的血样,冷链递送至潍坊市新生儿疾病筛查中心。先后采用细菌抑制法、时间分辨仪荧光法、荧光法对血样进行检测,根据不同的切值,筛查出阳性患儿,最终确诊的患儿接受治疗。结果 2001年1月—2019年12月筛查1767288例,其中确诊患者经典PKU 176例,四氢生物蝶呤缺乏症3例,高苯丙氨酸血症29例,发病率为1∶10041。结论本研究有效地反映出潍坊地区的筛查率和发病率,对新生苯丙酮尿症患儿,早发现、早诊断、早治疗和早干预,从而使患儿生长发育指标、智能达到同龄水平,有利于进一步做好三级预防工作。

Objective In order to understand the screening rate,incidence,treatments and intervention effects of neonatal phenylketonuria in Weifang area,as well as the etiological investigation of phenylketonuria in children.Methods Blood samples were collected using standard procedures in blood collection agency,and transported to the Weifang Neonatal Disease Screening Center at 4-8℃.The bacterial inhibition assay,the Time-resolved fluoroimmunoassay,and the fluorescence method were used.According to different cut-off values,the positive children were screened out,and the children who were finally diagnosed receive treatment.Results From January 2001 to December 2019,1767288 cases were screened.Among them,176 cases were diagnosed with classic PKU,3 cases were Tetrahydrobiopterin deficiency,and 29 cases were hyperphenylalaninemia.The incidence was 1:10041.Conclusion This study effectively reflects the screening rate and incidence in Weifang area.Early detection,early diagnosis,early treatment and early intervention for newborn children with phenylketonuria will enable the children’s growth and intelligence to reach the same age level and conducive to further tertiary prevention.