2022年度遵义市67403例新生儿苯丙酮尿症筛查分析  

Screening Analysis of 67 403 Newborns with Phenylketonuria in Zunyi City in 2022

作　　者：冯江平 喻欢 FENG Jiangping;YU Huan(Zunyi Maternal and Child Health Care Hospital,Guizhou Zunyi 563000)

机构地区：[1]遵义市妇幼保健院,贵州遵义563000

出　　处：《深圳中西医结合杂志》2023年第13期15-18,共4页Shenzhen Journal of Integrated Traditional Chinese and Western Medicine

摘　　要：目的:分析2022年遵义市67 403例新生儿苯丙酮尿症筛查结果。方法:选取2022年1月至2022年12月在遵义市出生并接受苯丙酮尿症筛查的67 403例新生儿为研究对象,收集其足跟血干血斑样本,采用荧光分析法测定干血斑中新生儿的苯丙氨酸指标水平,疑似阳性的新生儿进行进一步确诊。分析所有新生儿的苯丙酮尿症诊断情况。结果:2022年遵义市69 394例新生儿中总共有67 403例接受了苯丙酮尿症筛查,筛查率为97.13%,其中苯丙酮尿症的可疑阳性数为390例,可疑阳性召回率为100.00%。390例可疑阳性的新生儿中,确诊苯丙酮尿症的有7例,其中男性2例,女性5例,确诊率为0.010 39%。7例患儿中经典型苯丙酮尿症、中度苯丙酮尿症以及轻度高苯丙氨酸血症分别为1例(14.29%)、1例(14.29%)、5例(71.43%)。结论:2022年贵州省遵义市新生儿苯丙酮尿症筛查率为97.13%,苯丙酮尿症发生率为0.010 39%。Objective To analyze the screening results of phenylketonuria in 67403 newborns in Zunyi City in 2022.Methods From January 2022 to December 2022,67403 neonates who were born in Zunyi City and received screening for phenylketonuria were selected as the research subjects.The dried blood spot samples of heel blood were collected,and the phenylalanine index level of the newborns in the dried blood spots was determined by fluorescence analysis.The suspected positive neonates were further diagnosed.All neonates were analyzed for phenylketonuria diagnoses.Results A total of 67403 of the 69,394 newborns in Zunyi City received phenylketonuria screening in 2022,and the screening rate was 97.13%.Among them,390 cases were suspected positive for phenylketonuria,and the recall rate of suspected positive was 100.00%.Among the 390 suspected positive neonates,7 cases were diagnosed with phenylketonuria,including 2 males and 5 females,and the confirmed rate was 0.01039%.Among the 7 children,there were 1(14.29%),1(14.29%),and 5(71.43%)cases of classic phenylketonuria,moderate phenylketonuria,and mild hyperphenylalaninemia,respectively.Conclusion In 2022,the screening rate of phenylketonuria in newborns in Zunyi City, Guizhou Province was 97.13 %, and the incidence rate of phenylketonuria was 0.010 39 %.

关 键 词：苯丙酮尿症 新生儿 遵义市 荧光分析测定法 

分 类 号：R722.1[医药卫生—儿科]