摘要
目的 分析和总结北京市苯丙酮尿新生儿筛查状况.方法婴儿出生喂奶72小时后采取足跟血,滴渗在规定的滤纸片上.采用Guthrie细菌抑制法测定血苯丙氨酸含量.结果 北京市自1993年开展苯酮尿症新生儿筛查,筛查率逐年提高,截止到1997年8月达 89.1%.几年来共筛查250 227名新生儿,确诊苯丙酮尿症患儿24名,检出率1:11 705.24名患儿中有17名积极配合治疗智能发育正常、有4名出现不同程度智力异常、另有3名放弃治疗.结论 新生儿筛查能使苯丙酮尿症患儿得到早期诊断和治疗,防止智力低下的发生,
ve To analyse the situation of present newborn screening for phenylkertonuria(PKU). Method Sample of heel blood collected from newborn after 72 hours feeding, and dropped on the stipulated filter paper to determine the Phen content of blood according to Guthrie germ. Results Since 1993, PKU newborn screening has been started in Beijing, up to August 1997, newborn screening rate reached 89.1% ,250 227 newborn babies have been surveyed, 24 have been confirmed as PKU patients, the confirmed rate is 1:11 705. Among 24 PKU patients, 17 were extremely cooperated in treatment and their intelligence development were normal, 4 patients were abnormal, 3 patients gave up the treatment. Conclusion Newborn screening can let PKU patients get early diagnosis and treatment and also avoid abnormal intelligence development.
