2000—2008年河北省新生儿苯丙酮尿症筛查结果分析  

Newborn Phenylketonuria in Hebei Province:An analysis of screening results from 2000 to 2008

作　　者：马书军[1] 赵庆伟[1] 崔炳元[1] 闫承生[1] 钱立杰[1] 

机构地区：[1]河北省妇幼保健中心,河北省石家庄市050031

出　　处：《中国全科医学》2009年第19期1785-1786,共2页Chinese General Practice

基　　金：河北省2008年医学科学研究重点课题(08040)

摘　　要：目的分析河北省新生儿苯丙酮尿症(PKU)筛查状况、PKU发病率及治疗情况,总结经验,促进新生儿筛查工作。方法以2000年1月—2008年9月在河北省11所市新生儿疾病筛查中心(新筛中心)进行PKU筛查的218万例新生儿作为分析对象,在出生后72h采足跟血,分别采用细菌抑制法(BIA)、荧光法、定量酶法测定血苯丙氨酸(phe)水平。结果218万例新生儿中,确诊PKU249例,发病率为1∶8757,其中男婴145例,女婴104例,男女之比约为1.39∶1,各年度的发病率比较差异无统计学意义(P>0.05),各市的发病率比较差异有统计学意义(P<0.05)。确诊的138例PKU患儿接受正规治疗,治疗率为55.4%。结论河北省是PKU高发区,新生儿疾病筛查是早发现、早诊断、早治疗PKU的重要措施,在今后的工作中要大力提高治疗率,使PKU患儿的智力和体格发育达到正常标准,减少残疾的发生,提高人口素质。Objective To analyze the condition of newborn phenylketonuria （PKU） screening, to investigate the morbidity and treatment of PKU in Hebei province so as to promote the work in newborn screening. Methods Totally 2 180 000 newborns who received PKU screening in 11 newborn disease screening centers of Hebei province form January 2000 to September 2008 were taken as the subjects. The heel blood was sampled 72 hours after birth for detection of phenylalanine by bacterial inhi- bition assay, fluorescent enzyme immunoassay and enzyme quantitative method respectively. Results Among 2 180 000 newbo- rns, 249 were diagnosed as having PKU, with a PKU morbidity rate of 1 ： 8 757 ; 145 were male and 104 were female, with a ratio of 1.39： 1. There was no significant difference in morbidity among years （P 〉0.05）, but a significant difference was found in morbidity among cities （P 〈 0.05 ）. The 138 PKU patients were given routine therapy, the rate of treatment was 55.4%. Conclusion The PKU morbidity rate in Hebei province is higher, the newborn disease screening is an important way to early discover, diagnose and treat PKU. The treatment rate should be increased greatly so that the mentality and physique of PKU infants will develop into normal standard, thus reducing occurrence of health problem and raising the quality of population.

关 键 词：苯丙酮尿症 筛查 发病率 治疗率 河北省 

分 类 号：R725.893[医药卫生—儿科]