苯丙酮尿症的新生儿筛查和诊断治疗

Newborn screening,treatment and diagnosis of phenylketonuria

目的探讨湛江市PKU发病情况,治疗效果,总结经验,以便更好的指导今后筛查工作。方法应用化学荧光法进行血苯丙氨酸检测,确诊患者给予治疗,定期检测血苯丙氨酸水平及体格和智能发育。结果自1997～2009年共筛查511500例新生儿,确诊3例,检出率为1:170500,明显低于全国平均水平。结论新生儿PKU的筛查及早期诊断治疗,是减少出生缺陷,提高人口素质的重要措施之一。

Objective：To explore the morbidity and treatment effect and screening of phenylketonuria（PKU） in zhanjiang to find the better way to guide the future screening.Methods：PKU was screened by fluorometric method.Infant with PKU had been given treatment,Measured regularly in phenylalanine leve1.physical development and intellectual development.Results：From 1997 to 2009,Results total of 511 500 cases were screened,3 cases of PKU detected with an incidence of 1：170 500.It was lower obviously than that of other area in China.Conclusions：Early screening and treatment for newborn with PKU is one of the important measures for reducing infant defect and improving population qualify.