大庆地区新生儿苯丙酮尿症苯丙氨酸筛查切值的研究  

Study on Phe cut-off point of neonatal phenylketonuria screening in Daqing.

作　　者：潘建玲[1] 赵玉秋[1] 陈玉梅[1] 张凤侠[1] 

机构地区：[1]哈尔滨医科大学第五临床医学院检验科,黑龙江大庆163316

出　　处：《中国优生与遗传杂志》2007年第2期65-65,71,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨大庆地区新生儿苯丙氨酸（phenylalanine,Phe）测定时新生儿苯丙酮尿症筛查切值。方法以大庆地区出生的新生儿为筛查对象,于出生后48~72h,充分哺乳后采取足跟血,应用定量酶法检测标本中苯丙氨酸含量。结果2004年1月至2005年12月两年期间共筛查20214例,确定大庆市新生儿苯丙酮尿症的筛查切值为2.60mg/dl。结论新生儿足跟血Phe切值的确定为大庆市新生儿苯丙酮尿症的筛查工作提供依据,早发现早治疗可避免患儿的智力障碍,对提高我国人口素质有着十分重要的意义。To study the cut - off point of phenylalanine of neonatal screening for phenylketonuria （ PKU ）. Methods ： The newborns in Daqing region were chosen as the screening objects and were sampled the heel blood from after sufficient suckling when they were 48 - 72 hours old. The concentrations of Phe in the samples were detected by quantitative enzymatic method. Restults ： 20214 newborns were screened from January of 2004 to December of 2005, the cut - off point of phenylalanine of neonatal screening for phenylketonuria is 2.60 mg/dl in Daqing. Conclusion ： Phe cut - off point of neonatal screening for phenylketonuria is studied by our laboratory, it will be provide the scientific basis for phenylalanine of neonatal screening in Daqing. The diagnosis and treatment in the early stage may avoid the children＇s handicap in intelligence, and are significant for enhancing the diathesis of the population of our country.

关 键 词：苯丙酮尿症 新生儿 切值 定量酶法 

分 类 号：R722.11[医药卫生—儿科]