云南新生儿苯丙酮尿症和先天性甲状腺功能低下症的筛查研究

The research of neonatal phenylketonuria and congenital hypothyroidism screening in Yunnan

目的分析云南全省新生儿苯丙酮尿症和先天性甲状腺功能低下症筛查情况,初探与之相关的发生因素。方法通过回顾性分析来源于全国新生儿疾病筛查数据直报系统,2014年全省129个区县市的新筛数据数据,全省共筛查了506 331人,采用SPSS 15.0软件包,多因素回归分析和逐步回归分析。结果全省共确诊先天性甲状腺功能低下症140例,发病率为2.76/万(1∶3619);新生儿苯丙酮尿症21例,发病率为0.41/万(1∶24 125)。苯丙酮尿症和先天性甲状腺功能低下症发病率作双变量相关,两者相关系数r=0.611,P值≤0.001;呈正相关关系,有统计学意义。先天性甲状腺功能低下症与人均收入和海拔呈正相关关系,苯丙酮尿症发病率与地区和人均收入有关。结论由于本省独特的地理气候环境和少数民族构成了复杂的生态环境和遗传性状,我省新筛各地区间、与国内各省市比较发病率存在较大差异,具有一定特点,为进一步提高新生儿疾病筛查及干预措施提供依据。

Objective:To report Yunnan province neonatal phenylketonuria(PKU)and congenital hypothyroidism(CH)screening status,and preliminary the study of the related factors.Methods:Analysis from national neonatal screening data reporting system,the new screen data in 2014 Yunnan province’s 129 counties,a total of 506 331 people screened,multiple regression analysis and stepwise regression analysis by SPSS.15 software package.Results:A total of 140 cases of congenital hypothyroidism were diagnosed in this province,the incidence rate was 2.76/ million(1:3 619),and 21 cases of neonatal phenylketonuria,the incidence rate was 0.41/ million(1:24125).The incidence of phenylketonuria and congenital hypothyroidism was related to the two variables,the correlation coefficient r=0.611,P<0.001;positive correlation,there was statistical significance.Congenital hypothyroidism is positively correlated with per capita income and altitude,and the incidence of phenylketonuria is related to regional and per capita income.Conclusion:Due to the unique geographical and climatic environment of the province and ethnic minorities constitute a complex ecological environment and genetic traits,our province around the new screen interval,compared with domestic provinces and cities,the incidence of differences,has certain characteristics,provide the basis and guidance for further improvement of neonatal disease screening and intervention measures.