山西省新生儿疾病筛查中心十年苯丙酮尿症患儿治疗效果评估

Outcomes of children with Phenylketonuria detected by newborn screening program

目的评估山西省新生儿疾病筛查中心确诊的苯丙酮尿症（PKU）患儿治疗效果。方法2004年6月1日至2014年9月30日，在山西省新生儿疾病筛查中心确诊并随访至2015年12月31日的102例PKU患儿，纳入分析。治疗期间，定期监测患儿血苯丙氨酸（Phe）浓度、体格、智力、营养状况，取最近一次监测结果进行统计学分析。结果102例患儿中，94.12%（96/102）体格发育正常，91.18%（93/102）智力正常。生后1月龄前开始治疗的患儿，平均发育商或智商高于1月龄后开始治疗的患儿[（93.07±9.50）分比（87.39±10.99）分，t＝3.09，P＝0.00]。82.47%（80/97）患儿锌缺乏，31.46%（28/89）血脂异常。血Phe浓度控制在理想水平的百分率为（59.73±19.03）%。智力发育水平与患儿开始治疗年龄呈负相关（r＝－0.25，P＝0.01），与父亲、母亲文化程度呈正相关（r分别为0.21、0.23，均P〈0.05），居住在城市的患儿智力发育好于农村（r＝－0.03，P＝0.00）。 结论PKU患儿接受规范治疗后，体格及智力发育水平可基本达到正常水平，治疗越早效果越好.

Objective To evaluate the outcomes of children with Phenylketonuria （PKU） detected by newborn screening program. Methods One hundred and two children with PKU were detected and diagnosed in Shanxi Newborn Screening Center from June 2004 to September 2014. All children with PKU were followed up until December 2015. During the follow-up, the Phenylalanine （Phe） levels, physical and intellectual development, nutrition status of those children were monitored. Results Among 102 PKU children, there were 96 （94.12 % ）with normal physical development, and 93 （91.18%）with normal DQ/ IQ. The average DQ or IQ score in children who started the therapy before 1 month was higher than that in those who started after 1 month old（93.07 ±9.50 vs. 87.39 ±10.99, t = 3.09, P = 0.00）. Among these children 82.47% （80/97） had zinc deficiency and 31.46% （ 28/89 ） had dyslipidemia ; and the normal Phe concentration rate was （ 59.73 ±19.03 ） %. The intellectual development level was negatively correlated with the age of starting therapy （ r = - 0.25, P = 0.01 ） , positively correlated with the education levels of his/her father （r = 0.21, P = 0.03） and mother （ r = 0.23, P = 0.02）. And the intellectual development was better in urban areas than that in rural areas. Conclusions With the standardized treatment, the physical and intellectual development of children with PKU can basically reach normal levels, and the earlier treatment can make better therapeutic effect.