782630名新生儿苯丙酮尿症筛查结果分析  

An analysis of screening results of newborn phenylketonuria in Shenzhen city

作　　者：黄晓春[1] 江剑辉[2] 伍小秋[1] 洪雄新[1] 彭红兵[1] 

机构地区：[1]深圳市妇幼保健院新生儿疾病筛查中心,广东深圳518048 [2]广州市妇婴医院新生儿筛查中心,广东广州510180

出　　处：《中国妇幼健康研究》2009年第3期333-335,共3页Chinese Journal of Woman and Child Health Research

摘　　要：目的对深圳市1998年～2008年间的782630例新生儿苯丙酮尿症筛查结果进行分析，探讨其发病情况和发病率。方法采集出生72小时后并充分哺乳的新生儿足跟血制成千血片，应用细菌抑制法、自动连续微量流动荧光分析技术、荧光分析法，检测血苯丙氨酸含量进行苯丙酮尿症筛查。结果筛查出患儿27例，其中经典型苯丙酮尿症15例、高苯丙氨酸血症8例、四氢喋呤缺乏症4例。检出率为1：28986，低于我国1985年～2001年对5817280例新生儿进行苯丙酮尿症筛查所得的检查率1：11144；筛查出患儿性别比较无显著差异（X2=0．10，P〉0．05）。结论开展新生儿疾病筛查是早期发现苯丙酮尿症患儿，并及时进行治疗，避免残障儿发生的有效措施。Objective To analyse screening results of newborn phenylketonuria （PKU） among 782 630 neonates born in all hospitals in Shenzhen city over a period from 1998 to 2008 so as to investigate prevalence rate of the disease. Methods The blood samples from heel of neonates who were fully fed aged 72 hours after birth were taken and a dry blood slice was prepared. The bacterial inhibition assay （ BIA）, fluorometric micro-continuous flow system and fluorescence assay were used to determine concentration of phenylalanine （Phe） to screen PKU. Results Totally, 27 neonates with PKU were identified, including 15 cases of classical PKU, 8 cases of hyperphenylalaninemia （HPA） and 4 cases of tetrahydrobiopterin deficiency （BH4D）. The detectable rate of PKU in Shenzhen city was 1：28 986, which was lower than 1：11 144 of detectable rate of PKU screened among 5 817 280 neonates conducted over a period from 1985 to 2001 in China. In prevalence rate of PKU, there was no significant difference between the two genders （X2 = 0. 10, P 〉 0.05 ）. Conclusion Developing neonatal screening is an effective method to early identify and timely treat those neonates with PKU to aviod occurrence of handicapped children.

关 键 词：新生儿疾病筛查 苯丙酮尿症 高苯丙氨酸血症 四氢喋呤缺乏症 

分 类 号：R722[医药卫生—儿科]