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目的分析我国西北五省区新生儿苯丙酮尿症(PKU)和先天性甲状腺功能低下症(CH)的筛查结果,为进一步提高该地区新生儿疾病筛查管理水平及干预措施提供依据。方法新生儿出生72 h并充分哺乳后采集足跟内侧或外侧血滴于滤纸片,PKU采用荧光法检测苯丙氨酸含量,CH采用时间分辨荧光免疫方法检测促甲状腺激素水平。结果西北五省区共筛查新生儿470 078例,PKU平均发病率为1:3761,明显高于华北和东北地区,也高于全国的平均水平,其中以甘肃发病率最高,陕西次之,宁夏和青海居中较为接近,新疆发病率最低。而CH在西北、华北和东北地区的平均发病率在1:3583~1:3220之间,十分接近没有明显的差异,其平均水平为1:3363,低于全国平均值。结论新生儿疾病筛查在我国西北五省以及整个北方地区具有区域特点和地区差异。
Objective To analyze the screening results of neonatal phenylketonuria (PKU) and congenital hypothyroidism (CH) in five provinces of northwestern China, and provide evidences for further improving the management of neonatal disease screening and intervention measures in this area. Methods The newborn was born 72 h after breastfeeding and the inside or outside of the heel was collected to filter the filter paper. PKU was used to detect the phenylalanine content by fluorescence method, and CH was used to detect thyrotropin levels by time-resolved fluorescence immunostaining. Results A total of 470 078 newborns were screened in five provinces of Northwest China. The average incidence of PKU was 1: 3761, which was significantly higher than that of North China and Northeast China. The average incidence of PKU was higher than that of the whole country, with the highest incidence in Gansu, followed by Shaanxi, Ningxia and Qinghai are closer to each other, with the lowest incidence in Xinjiang. The average incidence of CH in Northwest China, North China and Northeast China was between 1: 3583 and 1: 3220, which was close to no significant difference. The average level of CH was 1: 3363, lower than the national average. Conclusion Neonatal disease screening has regional characteristics and regional differences in the five northwestern provinces in China and the entire northern region.