四川片区51万余例新生儿苯丙酮尿症筛查分析

Screening results of phenylketonuria in 520 thousand neonates in Sichuanarea

目的了解四川片区苯丙酮尿症(PKU)的筛查情况和发病率。方法 2015年1月至2016年12月,四川省新生儿疾病筛查中心采用荧光分析法检测517 751例新生儿足跟滤纸干血片苯丙氨酸含量,按不同地区分组,比较新生儿初筛阳性率、初筛阳性召回率、确诊召回率、失访率及发病率,并对结果进行分析。结果初筛阳性638例,初筛阳性率为0.12%;初筛阳性召回复查511例,初筛阳性召回率为80.09%;通知确诊78例,召回确诊61例,确诊召回率为78.21%;失访144例,失访率为0.28‰(1/3 595)。确诊患儿30例,高苯丙氨酸血症(HPA)发病率为0.58/万(1/17 258);包括轻度HPA 11例(36.67%)、轻度PKU 4例(13.33%)、经典型PKU 11例(37.67%)和四氢生物蝶呤缺乏症(BH4D)4例(13.33%)。不同地区PKU初筛阳性率差异有统计学意义(χ~2=184.469,P<0.05),不同地区PKU失访率差异有统计学意义(χ~2=319.112,P<0.05),农村与城市发病率差异无统计学意义(χ~2=1.802,P>0.05)。结论四川片区HPA发病率低于全国平均水平,高于成都市水平;地区失访率的差异可能对其发病率的准确性产生一定的影响。

Objective To investigate the situation of screening and the incidence of phenylketonuria(PKU) among the neonates in Sichuan area.Methods During the period from January 2015 to December 2016,the level of phenylalanine in dried blood slices of 517,751 neonates’ heel filter papers was detected through fluorescence analysis at Sichuan Neonatal Disease Screening Center.The positive rate of neonatal primary screening,the recall rate of positive primary screening,the recall rate of confirmed diagnosis,the rate of loss of follow-up and the incidence rate of it were worked out for analysis.Results Screening test of a total of 638 cases was positive,and the positive rate of primary screening was 0.12%. 511 cases were recalled for rechecking,and the positive rate was 80.09%.78 cases were confirmed by notification,and 61 cases were recalled by recall,and the recall rate was 78.21%.It lost the contact for 144 cases,and the rate of loss of follow-up was 0.28‰(1/3 595).A total of 30 children were diagnosed to have the condition,and the incidence of hyperphenylalanine(HPA) was 0.58/10,000,including 11 cases of mild HPA(36.67%),4 cases of mild PKU(13.33%),11 cases of classical PKU(37.67%),and 4 cases of BH4 D(13.33%).There were significant differences in the positive rate of primary screening for PKU for different areas(χ~2=184.469,P<0.05).There were significant differences in the rate of loss of follow-up of PKU for different areas(χ~2=319.112,P<0.05),but no significant differences in the incidence of PKU between rural and urban areas was found(χ~2=1.802,P>0.05).Conclusion The incidence of hyperphenylalanine(HPA) in Sichuan area is lower than the national average level,higher than that of Chengdu city.The discrepancy in regional rate of loss of follow-up may have an effect on the accuracy of its incidence.