佛山市350821名新生儿苯丙酮尿症筛查回顾性分析

目的:了解佛山市新生儿苯丙酮尿症的发生率及治疗随访情况。方法:用荧光法检测滤纸干血斑苯丙氨酸浓度。苯丙酮尿症的筛查切值为2 mg/dl,对苯丙氨酸浓度高于切值者,做苯丙氨酸、BH4负荷试验,尿喋呤谱分析,确定苯丙酮尿症类型。并对苯丙酮尿症患儿治疗随访。结果:筛查佛山市350 821名新生儿,阳性9例,筛查阳性率为1/38 980,除1例失访外,余8例患儿体格及智能发育均正常。结论:佛山市苯丙酮尿症的发生率明显低于国内平均水平,早期诊断、医院、社会、家属、患儿共同努力是改善苯丙酮尿症预后的关键。

Review on the results of 350 821 neonates screening for phenylketonuria within Foshan city.

Objective:To study the incidence of phenyiketonuria among neonates and to get a overall picture about the condition of the neonates with phenylketonuria through treatment follow-up in Foshan city.Methods:Using fluorumetric method to detect phenylalanine concentration in dried-blood spot specimen on filter paper.The cut-off point of phenylalanine of neonatal screening for phenylketonuria was 2 mg/dl;the types of phenylketonuria were determined by performing phenylalanine,BH4 loading test,neopterin,and biopterin on the neonates whose phenylalanine was greater than cut-off point 2 mg/dl.Results:Among the 350 821 neonates screened,9 individuals were found to have positive result,making the incidence 1/38 980;Of the 9 positive ones,8 cases were well developed physically and mentally and the rest one failed to be visited and was unknown of the condition.Conclusion:The incidence of neonatal phenylketonuria in Foshan is lower than that of mean level countrywide.Early diagnosis,together with the joint effort of the screening center,humanity,sick children and his parents,play a key roll in improving the future condition of the neonates with phenylalanine.