苯丙酮尿症患儿先天性心脏病的流行情况

• 作 者: 宋金松
• 出 处: 国外医学(儿科学分册)
• 发表日期: 1992年04期
• 关键词: 苯丙酮尿症 高苯丙氨酸血症 大血管错位 先天性心脏病 超声心动图诊断 室间隔缺损 荷兰人 丙氮酸 正常参考值 杂合体

苯丙酮尿症(PKU)母亲所生非 PKU 子代的先天性心脏病(CHD)的发病率明显增高,非 PKU 的母亲所生 PKU 子代 CHD 发病率是否增高,目前尚未见报道。方法和结果 1974年9月1日到1989年11月31日在荷兰新生儿 PKU 普查中发现 PKU149例,高苯丙氨酸血症19例。149例 PKU 患儿中3例有CHD,其中大血管错位2例(术后均死亡),尸检证实室间隔缺损1例,与超声心动图诊断相同。这3例

The incidence of congenital heart disease (CHD) in non-PKU offspring born to mothers with phenylketonuria (PKU) is significantly higher, and the incidence of CHD in non-PKU mothers born with CHU has not been reported. Methods and Results149 cases of PKU and 19 cases of hyperphenylalaninemia were found in the Netherlands PKU census from September 1, 1974 to November 31, 1989. Three of the 149 patients with PKU had CHD, of which 2 had major vessel dislocation (all died after surgery), and 1 had ventricular septal defect confirmed by autopsy, which was the same as that of echocardiography. These three cases