新生儿苯丙酮尿症筛查结果分析

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。

Analysis of careening for neonate phenylketonuria in Zhongshan

Objective:To investigate the frequencies,treatment and clinic classification of phenylketonuria(PKU)in Zhongshan by screening neonatal phenylketonuria(PKU).Methods:The screening for neonatal PKU was conducted among 95 471 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 1/47 736.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.