摘要
目的回顾性分析甘肃省567 691例新生儿苯丙酮尿症筛查结果,了解甘肃省新生儿苯丙酮尿症（PKU）的发病情况,为甘肃省PKU的防治提供基础数据。方法标本为甘肃省新生儿筛查中心于2009~2014年收集的567 691例新生儿足跟血滤纸干血斑样品,用荧光定量法检测苯丙氨酸水平,并采用尿碟呤谱分析及苯丙氨酸羟化酶（PAH）基因突变检测进行鉴别诊断。结果在567 691例新生儿中,确诊PKU患儿166例;总体检出率为1/3 420,其中经典PKU 119例（71.7%）,中等型PKU33例（19.9%）,轻型PKU 14例（8.4%）。结论甘肃省PKU发病率远高于全国平均发病水平,以经典型PKU发病为主,应成为PKU重点防治地区。
Objective To retrospectively analyze the screening results of phenylketonuria（PKU）among 567 691 neonates in Gansu Province to understand the prevalence situation of PKU and provide the basic data for preventing and treating PKU in Gansu Province.Methods 567 691 samples of neonatal dried heel blood spots were collected by Gansu Province Newborn Screening Center from 2009 to 2014and the phenylalanine（Phe）level was quantitatively determined by the fluorescence quantification method.The identification was performed by using the urine pterine profile analysis and phenylalanine hydroxylase（PAH）gene mutation detection.Results Among 567 691 neonates,166neonates were diagnosed as PKU,the total detection rate was 1/3 420,in which 119cases（71.7%）were classic PKU,33cases（19.9%）were moderate PKU and 14cases（8.4%）were mild PKU.Conclusion The morbidity rate of PKU in Gansu Province is much higher than the national average incidence level,which is dominated by classic PKU.Therefore Gansu Province should become the major area of PKU prevention and treatment.
出处
《国际检验医学杂志》
CAS
2015年第24期3588-3590,共3页
International Journal of Laboratory Medicine
关键词
新生儿疾病筛查
苯丙酮尿症
荧光定量法
甘肃
neonatal screening
phenylketonuria
fluorescence quantification
Gansu
