论文部分内容阅读
目的对新生儿苯丙酮尿症(PKU)筛查确诊患儿的治疗效果进行初步分析。方法采用化学荧光分析法或细菌抑制法进行足跟血苯丙氨酸(phe)检测,对高苯丙氨酸症者进行尿碟呤谱分析、红细胞二氢碟啶还原酶(DHPR)活性检测,以及phe加BH4联合负荷试验;PKU患儿用饮食疗法,四氢生物碟呤缺乏症(BH4D)用药物治疗。结果我省PKU发病率为1∶18447,BH4D占55%;接受饮食治疗的PKU患儿7例,其智商>90分5例,占71.4%,智商50-69分2例,占28.6%;接受药物治疗的BH4D患儿9例,其智商≥90分2例,占22.2%、智商70-84分3例,占33.3%、智商50-69分4例,占44.4%。结论PKU患儿早期诊疗能达到避免严重弱智的目的。
Objective To analyze the therapeutic effect of neonatal phenylketonuria (PKU) screening in children. Methods Hepatic phenylalanine (phe) was detected by chemiluminescence assay (FCM) or bacterial inhibition assay. The urine phenylalanine spectrum and urinary DHP reductase (DHPR) activity were detected in patients with hyperphenylalaninemia. , And phe plus BH4 combined stress test; PKU children with diet therapy, tetrahydrobiopterin deficiency (BH4D) drug treatment. Results The incidence of PKU in our province was 1:18447 and that of BH4D was 55%. Seven children with PKU who received dietary therapy had an IQ> 90.5% (71.4%) and IQ (50-69) in 28.6%. There were 9 cases of BH4D children who received drug therapy. The IQ ≥ 90 points were 2 cases (22.2%), IQ was 70-84 points (33.3%), IQ was 50-69 points (44.4%). Conclusion The early diagnosis and treatment of children with PKU can achieve the purpose of avoiding severe mental retardation.