中山地区新生儿苯丙酮尿症筛查10年回顾性分析

Analysis and study of newborn phenylketonuria screening in Zhongshan for 10 Years

目的探讨中山市新生儿疾病筛查中心10年苯丙酮尿症(PKU)筛查情况和发病率。方法取72小时,充分哺乳8次以上的168 466例新生儿足跟末梢血,应用荧光定量法测定血苯丙氨酸(phe)水平,对PKU患儿实施phe饮食控制。结果在168 466例新生儿中检出phe增高(phe≥2mg/dl)的可疑患儿30例,经血清氨基酸分析,确诊PKU患儿5例,均为经典型PKU,总发病率为1/33693.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发病率低于全国水平,PKU患儿早期确诊、早期治疗效果满意,各级政府部门和医疗保健机构应加强新生儿筛查工作,进一步提高筛查覆盖率,降低PKU患儿残疾发生率,提高中山地区出生人口素质。

Objective： To investigate the screening frequencies and morbidity rate of phenylketonuria（PKU） in Zhongshan for 10 Years.Methods： The screening for neonatal PKU was conducted among 168 466 newborns in Zhongshan,Heel prick blood specimens were collected around 72h after birth with 6 intakes of high protein milk and specimens were dried on SS903 filter papers.Plenylalanine（Phe） levels were determined quantitatively with Perkin Elmer Neonatal Fluorometric PKU kits.Low Phe food was fed for PKU newborns.Results： Among 168 466 newborns,elevated blood Phe levels were fund in 30 infants,They were all recalled for serum amino acid analysis and 5 infants were confirmed to have classic PKU,The frequencies of total PKU in Zhongshan were 1/33 693.all clinic indexes 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.Earlymanagement effect is significant.The government and wonwen and children health care institutes at levels should strengthen the screen network building and management of neonatal disease screening,make the screening more accessible,screening coverage further,reduce,reduce the birth defect occurrence to improve the quality of the population in Zhongshan.