甘肃省6万例新生儿苯丙酮尿症筛查和治疗分析

Screening and management of phenylketonuria in Gansu.

【目的】研究甘肃省新生儿苯丙酮尿症（phenylketonuria,PKU）的发病情况,以便做到早确诊、早治疗。【方法】应用化学荧光分析法进行苯丙酮尿症检测,确诊患者给予低苯丙氨酸饮食治疗,定期检测血苯丙氨酸水平及体格和智能发育。【结果】自1999-2006年共筛查60 000例新生儿,确诊36例,检出率为1∶1 666,明显高于全国平均水平。【结论】新生儿PKU的筛查及早期治疗,是减少出生缺陷,提高人口素质的重要措施之一。

[Objective] To improve the diagnosis and curative effect for phenylketonuria （PKU） children. [Methods] PKU was screened by fluorometric method. Infant with PKU had been given low phenylalanine food. Measured regularly in phenylalanine level, physical development and intellectual development. [Results] From 1999 to 2006 in Gansu,totally of 60 000 newborns were screened for PKU, 36 cases of PKU detected with an incidence of 1 ： 1 666. It was higher 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 quality.