新生儿苯丙酮尿症筛查结果分析  

Analysis of careening for neonate phenylketonuria in Zhongshan

作　　者：姚英姿[1] 谭志伟[1] 杨孜[1] 单念忠[1] 

机构地区：[1]南方医科大学附属中山博爱医院生殖遗传中心,广东中山528403

出　　处：《中国妇幼保健》2008年第2期195-196,共2页Maternal and Child Health Care of China

摘　　要：目的:了解中山地区苯丙酮尿症的发病率、临床类型以及治疗情况。方法:取出生72h后并喂足高蛋白奶6次以上的95471例新生儿足跟血,应用荧光定量法测定血苯氨酸(phe)水平,对PKU患儿给予低phe饮食。结果:在95471例新生儿中检出phe增高(phe≥2mg/dl)的可疑者15例,经血清氨基酸分析,确诊PKU患儿2例,均为经典型PKU,总发病率为1/47736。PKU患儿经治疗后智力明显提高,临床各项指标恢复正常。结论:中山地区PKU发病率低于全国平均水平,对PKU采用的治疗方法适用、有效。Objective： To investigate the frequencies, treatment and clinic classification of phenylketonuria （PKU） in Zbongshan by screening neonatal phenylketonuria （PKU）.Methods： The screening for neonatal PKU was conducted among 95471 newborns in Zhongshan. Heel prick blood specimens were collected around 48-72h after birth with 6 intakes of high protein milk and specimens were dried on S＆S903 filter papers. Phenylalanine （Phe） levels were determined quantitatively with Perkin Elmer Neonatal Fluorometric PKU kits. low Phe food was fed for PKU newborns. Results： Among 95 471 newborns, elevated blood Phe levels were fund in 15 infants. They were all recalled for serum amino acid analysis and 2 infants were confirmed to have classic PKU. The frequencies of total PKU in Zhongshan were 1/47736. All clinic indexes of 2 PKU infants become normal by treatment. Conclusion： The data shows that the frequencies of total PKU in Zhongshan are lower than ones of the whole country. The treatment is effective and applicable for PKU.

关 键 词：新生儿疾病筛查 苯丙酮尿症 发病率 

分 类 号：R722.11[医药卫生—儿科]