151例苯丙酮尿症早期筛查的临床研究

目的:对筛查出苯丙酮尿症的患儿给予及时干预,避免痴呆儿的发生。方法:新生儿出生72h后,充分哺乳6次以上,采集足跟血滴于专用滤纸上,采用荧光方法测定血中苯丙氨酸(phe)的含量。结果:筛查973907例新生儿,检出苯丙酮尿症(PKU)151例,其中四氢生物蝶呤缺乏症(BH4)7例,发病率1/6443。结论:通过PKU患儿早期筛查的结果分析,为临床研究和治疗提供依据。

Clinical research of early screening on 151 cases of phenylketonuria

Objective:Through newborn screening,for children with phenylketonuria,if having intervened in time,we could avoid the occurrence of dementia.Methods: We collected the heel blood by Special filter paper from newborns which had born for over 72 hours,full lactated for over 6 times,used fluorescence method to test the phenylalanine(PHE) concentration in the blood.Results:A total of 973907 screening cases were tested,finally we found 151 patients of phenylketonuria(PKU),include 7 patients of four hydrogen tetrahydrobiopterin deficiency(BH4),the incidence rate was 1 /6443.Conclusion: Through analysis of early screening results on PKU children,we provide the basis for clinical research and treatment.