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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。
Objective To investigate the screening and treatment of phenylketonuria (PKU) in Weifang. Methods From January 2000 to September 2009, 655769 newborn infants were sacrificed and their blood was collected on a special filter paper. The concentration of phenylalanine (Phe) in blood spots was measured by chemiluminescence method. According to the concentration of blood phe Confirmed PKU. The diagnosis of low-phe diet, regularly check children’s blood phe concentration and physical, mental development, evaluation of children with changes in temperament characteristics. The results confirmed 73 cases of PKU children, 2 patients give up the treatment, the remaining children after early treatment, mental and physical development are in the normal range, but the temperament characteristics are different from normal children, difficult to maintain type of temperament higher than normal children. Conclusion Early detection and early treatment are very necessary to prevent the mental retardation of PKU.