摘要
目的分析辽宁省苯丙酮尿症(PKU)筛查情况,提供流行病学基础数据。方法以2005年10月～2010年9月在辽宁省全部新生儿疾病筛查中心进行PKU筛查的139万例新生儿作为分析对象,在出生后72h并充分哺乳后,采足跟血,滴在特定滤纸上,统一寄送筛查中心,进行血苯丙氨酸水平测定,对筛查阳性者进行确诊。结果辽宁省5年来PKU筛查率为88.5%,139万例新生儿中,共确诊PKU217例,PKU检出率为1∶6403,治疗率为90.8%。结论辽宁省近5年PKU的筛查率逐年提高,PKU检出率和治疗率高于全国平均水平。
Objective： To analyze the screening of phenylketonuria（PKU） in Liaoning Province and To describe the epidemiology characteristics of PKU.Methods： Total 1 390 000 newborns who received PKU screening in all the newborn disease screening centers of Liaoning Province from October 2005 to September 2010 were taken as the subjects.The heel blood was sampled 72 hours after birth for detection of phenylalanine by bacterial inhibition assay,fluorescent enzyme immunoassay and enzyme quantitative method respectively.The diagnosis was established for any positive screening child.Results： The screening rate of PKU was 88.5% from 2006 to 2010.Among 1 390 000 newborns,217 were diagnosed as PKU.The prevalence was 1∶ 6403.The rate of receiving treatment is 90.8%.Conclusion： The neonatal screening rate of Liaoning Province is increasing stably during the recent 5 years.Both the PKU prevalence and rate of receiving treatment in Liaoning Province is higher than the national average level.
出处
《中国优生与遗传杂志》
2012年第3期81-82,共2页
Chinese Journal of Birth Health & Heredity
基金
辽宁省科技厅科技项目
项目编号:2005225008
