贵州省全自动荧光免疫分析仪筛查新生儿苯丙酮尿症的参考限值研究  

Investigation of the reference limits for neonatal screening of phenylketonuria by the genetic screening processor in Guizhou Province

作　　者：尹亚茹 厉勇 刘正美 杨水平 石婧 罗永姣 熊玉洁 敖武 YIN Ya-ru;LI Yong;LIU Zheng-mei;YANG Shui-ping;SHI Jing;LUO Yong-jiao;XIONG Yu-jie;AO Wu(Guizhou Maternal and Child Health Care Hospital,Guiyang,Guizhou 550004,China)

机构地区：[1]贵州省妇幼保健院,贵州贵阳550004

出　　处：《中国妇幼保健》2024年第2期329-334,共6页Maternal and Child Health Care of China

基　　金：贵州省卫生健康委科学技术基金项目(gzwkj2021-396)。

摘　　要：目的探讨贵州省新生儿疾病筛查中心使用全自动荧光免疫分析仪(GSP)检测新生儿高苯丙氨酸血症(HPA)和苯丙酮尿症(PKU)筛查指标血苯丙氨酸(Phe)水平时参考限值的建立。方法分析2021年1—12月的样本共计171452份,采用百分位数法建立GSP分析仪筛查HPA时血Phe水平的参考限。结果总体新生儿Phe测定值水平99%可信限为1.88 mg/dl;男女性别组Phe值存在显著性差异,但检测结果99%百分位数时男女性别组新生儿Phe测定值均为1.88 mg/dl;六盘水地区、铜仁地区、黔东南地区、黔西南地区及部分省直医院两两比较发现,各组间的差异均有统计学意义(均P<0.05),检测结果99%百分位数分别是1.88 mg/dl、1.81 mg/dl、1.92 mg/dl、1.96 mg/dl及1.68 mg/dl;冷(10~12月和1~3月)、暖(4~9月)季组Phe测定值存在显著性差异,检测结果99%百分位数分别是1.75 mg/dl、1.98 mg/dl;总体新生儿Phe测定值的中位数0.90 mg/dl:男、女性别组的中位数与总体中位数水平一致,地区组中六盘水地区、铜仁地区、黔东南地区中位数及总体中位数水平基本一致,黔西南地区中位数水平高于总体水平,部分省直医院的中位数低于总体中位数,季节组中冷季的中位数低于总体中位数,暖季的中位数高于总体中位数,性别、地区及冷暖季组的Phe值均存在显著性差异。回归模型差异有统计学意义(F=1836.3,P<0.05),变量间不存在共线性,VIF均<5。纳入模型的3个自变量对PKU差异均有统计学意义(均P<0.05)。男性的Phe值显著低于女性(P<0.05),男性的Phe值比女性低0.008 mg/dl。暖季的Phe值显著高于冷季(P<0.05),暖季的Phe值比冷季高0.158 mg/dl。铜仁地区的Phe值显著低于六盘水地区(P<0.05),铜仁地区的Phe值比六盘水地区低0.009 mg/dl;黔东南地区的Phe值显著高于六盘水地区(P<0.05),黔东南地区的Phe值比六盘水地区高0.011 mg/dl;黔西南地区的Phe值显著高于六盘水地区(P<0.05),黔西南地区Objective Exploration of establishing reference limits for phenylalanine(Phe)levels in neonatal screening for high phenylalanineemia(HPA)and phenylketonuria(PKU)using the Genetic Screening Processor(GSP)at the neonatal screening center in Guizhou Province.Methods Establishment of reference limits for phenylalanine(Phe)levels in high phenylalanineemia(HPA)screening using the GSP,based on percentiles from January 2021 to December 2021,with a total of 171452 samples analyzed.Results The 99%confidence interval for overall newborn Phe levels was 1.88 mg/dl,and there was a significant difference in Phe values between male and female newborns.However,when the 99th percentile of the test results was considered,both male and female newborns have a Phe level of 1.88 mg/dl.Comparisons between different areas and hospitals in Guizhou Province,including Liupanshui District,Tongren District,Qiandongnan District,Qiannan District,and some provincial hospitals.The differences between each group were statistically significant(all P<0.05),and the 99th percentile of the measurement results were 1.88 mg/dl,1.81 mg/dl,1.92 mg/dl,1.96 mg/dl,and 1.68 mg/dl,respectively.There was a significant difference in Phe levels between the cold season(October to December and January to March)and the warm season(April to September),with 99th percentile of the measurement results were 1.75 mg/dl and 1.98 mg/dl,respectively.The overall median of Phe levels in newborns was 0.90 mg/dl.The median levels for males and females are consistent with the overall median level.In terms of geographical areas,the median levels in Liupanshui,Tongren,and Qiandongnan regions were similar to the overall median level,while the median level in Qiannan region was higher than the overall level.Some provincial hospitals have median levels lower than the overall median level.In terms of seasons,the median level in the cold season was lower than the overall median level,while the median level in the warm season was higher than the overall median level.A significant differen

关 键 词：全自动荧光免疫分析仪 新生儿苯丙酮尿症 阳性率 苯丙氨酸 

分 类 号：R722.1[医药卫生—儿科]