宝鸡地区2007~2013年新生儿筛查高苯丙氨酸血症结果分析  

Analysis of hyperphenylalaninemia in （HPA） neonates with Baoji city in 2007--2013

作　　者：屈萍[1] 武雅俐[1] 成艳[1] 唐凯[1] 梁会娟[1] 杨珍珍[1] 于青[1] 刘郁明[1] 

机构地区：[1]陕西省宝鸡市妇幼保健院遗传优生实验室,721099

出　　处：《中国优生与遗传杂志》2014年第7期101-102,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的对宝鸡市2007年∽2013年间的204 868例新生儿筛查苯丙氨酸浓度测定,并对部分阳性患儿血、尿标本进行MS/MS、GS/MS分析,探讨我市PKU发病情况和发病率。方法采用ELISA时间分辨荧光免疫多标记免疫分析法（DELFIA）检测血苯丙氨酸浓度。结果筛查出高苯丙氨酸血症71例,其中经典型PKU17例,轻度PKU22例,轻度HPA30例,BH4缺乏症2例,高HPA检出率为1/2885（71/204868）,高出全国HPA发生率（1/11444）,BH4缺乏症为2.82%。结论开展新生儿筛查是早期发现HPA的有效方法,对HPA患儿应进一步进行鉴别诊断,排除四氢喋呤缺乏症,并进行及时治疗,避免残障儿的发生。Objective： To assay phenylalanine concentration in 204 868 cases of Baoji city neonatal from 2007 to 2013, for some children with positive results, using MS/MS, GS/MS methods to analysis their blood and urine specimens. In order to discusse the conditions of PKU morbidity and morbidity in Baoji city. Methods： Using the method of DELFIA to detect phenylalanine concentration in neonates blood. Results： Screening out 71 cases with high phenylalanine hematic disease, including of 17 cases with typical PKU, 22 cases with mild PKU, 30 cases with mild HPA, 2 cases with BH4 deficiency. The detection rate of HPA is 1/2885 （71/204868） , which was higher than the national incidence of HPA （1/11444） , BH4 deficiency was 2.82%. Conclusion： Developing neonatal screening is an effective method for early detection of HPA. Differential diagnosis such as BH4 deficiency methed should used to HPA chirdern, and make timely treatment, avoid the happening of the disabled chirdern.

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 MS MS GS MS 

分 类 号：R722.1[医药卫生—儿科]