沈阳地区20万例新生儿苯丙酮尿症的筛查

Mass Screening of Phenylketonuria in Shenang Area

目的：早期发现与治疗苯丙酮尿症（ＰＫＵ）患者；调查沈阳地区ＰＫＵ的发病率。方法：采集生后４８ｈ以上的新生儿足跟血，浸在标准滤纸上，应用细菌抑制法（ＢＩＡ）进行苯丙氨酸（Ｐｈｅ）测定，发现并确诊（ＰＫＵ）。结果：筛查新生儿２０．３８１万例，发现１５例ＰＫＵ，１１例持续性高Ｐｈｅ血症，１４例新生儿一过性高Ｐｈｅ血症，１例新生儿一过性高酪氨酸血症。１５例ＰＫＵ经治疗获得了正常发育。结论：在本地区建立新生儿遗传代谢病的筛查系统是必要的。沈阳地区ＰＫＵ及持续性高Ｐｈｅ血症的发病率分别为１／１３３５８、１／１８２１６。

Objective:This paper was designed to investigate the incidence of phenylektonuria(PKU) in Shenyang and early detect and treat the patients.Methods:Heelprick blood was collected from 200 381 infants 48 hours after birth. The blood was adsorbed onto standard filter paper. We used bacterial inhibition assay(BIA) to determine phenylalanine levels in the blood,so as to discover and diagnose PKU.Results:Conclusions:The incidence was 1/13 358 for PKU,and 1/18 216 for persistent hyperphenylalaninemia in Shenyang.It is necessary to establish a screening system of neonatal hereditary metabolic diseases in this area.