威海市新生儿苯丙酮尿症筛查结果分析

目的了解威海市新生儿苯丙酮尿症发病率及其诊治情况。方法采用Guthrie’s细菌抑制法(BIA)测定新生儿滤纸干血片中的苯丙氨酸(Phe)含量,筛查切值为120umol/L。对血Phe浓度高于切值者,实施BH4负荷试验或Phe BH4联合负荷试验及尿蝶呤谱分析,进行鉴别诊断。结果威海市新生儿苯丙酮尿症发病率为1/9639:经典型PKU经低Phe饮食治疗后,其体格和智能发育良好,智商(IQ)>85,BH4D经BH4和左旋多巴(L-DOPA),5-羟色氨酸(5-HTP)联合治疗,临床症状明显缓解。结论威海市新生儿PKU发病率,略高于全国的平均水平,符合全国发病率北高南低的特点。对初筛为可疑阳性新生儿尽早实施鉴别诊断试验,有助于恰当治疗措施的选择,改善预后。

The analysis on results of neonatal screening for phenylketonuria in Weihai City

Objective To studytheincidence of pheny lketonuria(PKU) among neonates and its condition of diagnosis and treatment in Weihai City.Methods The level of neonatal phenylalanine on the dried blood spotcollected on the filter paper was determined by Guthrie bacteria inhibition assay(BIA),with a cutoff of 120umol/L.The BH_4 loading test or the combination of loading test of both the and BH_4 was performed on theneonates whose phenylalanine concentration was greater than a cutoff of 120 umo1/L.Results The incidence of phenylke tonuria among neonates in Weihal City was 1/9639.The neonates With Classic PKU had a good development of physique and intelligence,with a intelligence quotient(IQ)more than 85 after receiving a restricted phenylalanine diet.The clinical symptoms of the neonates with BH_4D was obvioasly relieyed by the combination of BH_4,L-DOPA and 5-HTP treatment.Conclusion The incidence of neonatal phenylketonuria in Weihai is slightly greater than that of mean level incountrywide,being in accordance with a characteristics of the incidencein North more than that in South.The differential diagnostic tests are performed on the neonates who has a positive results on initial screeningas soon as possible.Doing like this would be helpful to the choice of a adequate treating ways and improve the prognosis of the disorder.