中国北方508例苯丙氨酸羟化酶缺乏症患儿病例分析  

Case analysis on 508 children with phenylalanine hydroxylase deficiency in north China

作　　者：陶晶[1,2] 李娜娜[1,2] 李小洪[1,2] 刘珍[1,2] 邓莹[1,2] 朱军[1,2] 

机构地区：[1]四川大学华西公共卫生学院,四川成都610041 [2]华西第二医院中国出生缺陷监测中心

出　　处：《中国妇幼保健》2014年第21期3440-3443,共4页Maternal and Child Health Care of China

摘　　要：目的：通过对中国北方苯丙氨酸羟化酶（PAH）缺乏症患儿确诊时血苯丙氨酸（Phe）值的分析，探讨PAH缺乏症患儿机体外因素对确诊时血Phe值的影响。方法：采用回顾性调查的形式收集2012年6月～2013年12月北方7省20家医院确诊的PAH缺乏症患儿的临床及流行病学调查资料，对城乡患儿确诊时的血Phe值及机体外因素进行分析。结果：农村PAH缺乏症患儿确诊时血Phe值高于城市患儿（Z=-2．95，P=0．00）；农村PAH缺乏症患儿的确诊时间晚于城市患儿（Z=-3．69，P=0．00）。结论：提高孕产妇及其家属关于高苯丙氨酸血症（HPA）的预防保健知识，是避免患儿出生或尽早确诊的有效措施。Objective： To exploring effect of external factors on blood phenylalanine （Phe） value when diagnosis is confirmed by analyzing blood Phe values of children with phenylalanine hydroxylase （PAH） deficiency in north China. Methods： The clinical and epide- miological data of children with PAH deficiency diagnosed definitely in 20 hospitals from seven provinces in north China from June 2012 to December 2013 were collected by retrospective survey; the blood Phe values when diagnosis was confirmed and the external factors in urban and rural children were analyzed. Results： Blood Phe value when diagnosis was confirmed in rural children with PAH deficiency was statisti- cally significantly higher than that in urban children （ Z = - 2. 95, P = 0. 00） ; the time for definite diagnosis in rural children with PAH de- ficiency was statistically significantly later than that in urban children （ Z = - 3.69, P = 0.00） . Condlltsion ： Improving the knowledge a- bout HPA prevention and health care among pregnant women and their family members is an effective measure to prevent birth of children with PAH deficiency or obtain definite diagnosis early.

关 键 词：苯丙氨酸羟化酶缺乏症 苯丙氨酸浓度 确诊时间 

分 类 号：R589.3[医药卫生—内分泌]