2000年～2009年潍坊地区苯丙酮尿症患儿筛查及治疗情况分析

目的探讨潍坊地区苯丙酮尿症(phenylketonuria,PKU)患儿的筛查及治疗情况。方法对2000年1月至2009年9月655769例新生儿采足跟血,滴于专用滤纸片上,应用化学荧光法测血斑中的苯丙氨酸(phenylalanine,Phe)浓度,根据血phe浓度确诊PKU。确诊者予低phe饮食,定期查患儿血phe浓度及体格、智力发育水平,评价患儿气质特征的变化。结果确诊PKU患儿73例,2例自动放弃治疗,余患儿经早期治疗后,智力、体格发育均于正常范围,但气质特征有别于正常儿童,难养型气质类型高于正常儿。结论早发现、早治疗对预防PKU智力低下的发生是十分必要的。

Screening and Treatment Analysis of Children with Phenlketonuria in Weifang City from 2000 to 2009 Year

Objective：To explore the screening and treatment effect of pheylketonuria in Weifang.Methods：655769 infants were screened from Jan 2000 to Sep 2009.Venous blood was collected from the exterior or interior part in the heel and trickled on to the specialized filter paper.Phenylalanine（phe） was detected by chemical fluorescent method and PKU was diagnosed by the phe concentration.Infant with PKU had been given low phe food.The phe level was cheaked during the treatment,their physical and intellectual development were easured regularly,and the change of temperament was appraised.Results：In total 73 patients with PKU were diagnosed and then treated,but 2 patients with PKU gave up treatment.Physical and intellectual development all in normal ranges,but their temperament was different from normal child,the proportion of hard foster temperament was high.Conclusion：Newborn screening for early diagnosis and treatment is extremely importance for prevention mental retardation.