福建省龙岩市新生儿苯丙酮尿症、甲状腺功能减退症筛查分析  

Analysis of Screening Results of Neonatal Phenylketonuria and Congenital Hypothyroidism in Longyan,Fujian Province

作　　者：廖敏娟 袁丽萍[1] 王洋真 赖东莲[1] LIAO Minjuan;YUAN Liping;WANG Yangzhen;LAI Donglian(Department of Laboratory,Longyan First Hospital,Fujian Province,Longyan Fujian 364000,China)

机构地区：[1]福建省龙岩市第一医院检验科,福建龙岩364000

出　　处：《中国卫生标准管理》2023年第14期24-27,共4页China Health Standard Management

摘　　要：目的分析福建省龙岩地区2015—2022年新生儿苯丙酮尿症(phenylketonuria,PKU)和先天性甲状腺功能减退症(congenital hypothyroidism,CH)筛查结果,旨在为其早期诊治给予一定参考依据。方法对2015年1月—2022年12月福建省龙岩市新生儿PKU、CH进行综合与分析,使用荧光分析法对血苯丙氨酸(phenylalanine,PHE)浓度进行检测;使用时间分辨免疫荧光法对促甲状腺素(thyroid stimulating hormone,TSH)浓度检测。每年趋势变化分析使用χ^(2)检验,检验水准以α=0.05为依据。结果2015—2022年进行新生儿疾病筛查人数依次为50865、48115、53544、38421、32592、26184、21233、17145名,共计筛查288099名,2015—2022年进行新生儿疾病筛查率呈明显的上升趋势(P<0.05);2015—2022年CH、PKU检出率整体呈明显的上升趋势(P<0.05)。结论2015年1月—2022年12月福建省龙岩地区新生儿PKU、CH筛查工作效果显著,全方位实施新生儿疾病筛查工作,能够及时诊断新生儿疾病,为其临床治疗给予良好的参考依据,有利于提升人口整体素质,值得推荐。Objective To study and analyze the screening results of neonatal phenylketonuria(PKU) and congenital hypothyroidism(CH) in Longyan City,Fujian Province from 2015 to 2022,with the aim of providing a certain reference basis for early diagnosis and treatment.Methods A comprehensive analysis was conducted on neonatal PKU and CH in Longyan City,Fujian Province from January 2015 to December 2022.Fluorescence analysis was used to detect the concentration of phenylalanine(PHE) in the blood.Detection of thyroid stimulating hormone(TSH) using timeresolved immunofluorescence assay.Chi-square test is used to analyze the annual trend changes,and the testing level is based on α=0.05.Results From 2015 to 2022,there were 50 865,48 115,53 544,38 421,32 592,26 184,21 233,17 145 cases of neonatal disease screening,and a total of 288 099 cases were screened.The screening rate of neonatal diseases showed an obvious increasing trend from 2015 to 2022(P<0.05).The detection rates of CH and PKU showed a significant upward trend from 2015to 2022(P<0.05).Conclusion The screening work for neonatal PKU and CH in Longyan City,Fujian Province from January 2015 to December 2022 has achieved significant results.The comprehensive implementation of neonatal disease screening work can timely diagnose neonatal diseases,provide good reference basis for clinical treatment,and improve the overall quality of the population.It is worth recommending.

关 键 词：新生儿苯丙酮尿症 先天性甲状腺功能减退症 时间分辨免疫荧光法 血苯丙氨酸浓度 甲状腺浓度 筛查结果分析 

分 类 号：R722[医药卫生—儿科]