Abstract: Objective To evaluate the physical and neuropsychological development of children with dietation-treated phenylketonuria (PKU). Methods A total of 41 PKU children with phenylalanine hydroxylase deficiency in Wuxi city from January 2004 to December 2014 were enrolled. Height (length),weight and neuropsychological development scale for children aged 0-6 years were monitored,and phenylalanine dietary control index was calculated. Results 1)The blood phenylalanine concentration of PKU children decreased significantly before and after treatment,with an average decrease(506.57±40.54) μmol/L,which was statistical significance (H=21.232, P＜0.05).2)Among children aged 6 months,1 year,2 years and 3 years,the medium level height and weight accounted for the most,the height accounted for 70.7%,65.9%,68.3% and 68.3%,respectively,and the medium weight accounted for 78.0%,73.2%,75.6% and 73.2%,respectively.3)There were no significant differences on the physical and neuropsychological between children of different ages and types of PKU(P>0.05).4)The level of neuropsychological development was negatively correlated with the diagnosis and treatment time,blood phenylalanine concentration and dietary control index of PKU children (r=-0.601,-0.838,-0.792,P <0.05). Conclusion PKU children treated with diet and standardized follow-up can maintain normal physical and neuropsychological development levels,which are affected by the time of diagnosis and treatment and the concentration of phenylalanine in blood.

Key words: phenylketonuria, dietary therapy, neuropsychological development, children

摘要： 目的 评估经饮食治疗的苯丙酮尿症(PKU)患儿体格发育及神经心理发育水平。方法 收集无锡市2004年1月-2014年12月确诊并规范随访的苯丙氨酸羟化酶缺乏症的PKU患儿41例,于患儿6月龄、1岁、2岁、3岁时监测身高(长)、体重及测评《0~6岁儿童神经心理发育量表》,同时计算苯丙氨酸饮食控制指数。结果 1)PKU患儿治疗前后血苯丙氨酸浓度下降明显,平均下降(506.57±40.54) μmol/L,差异有统计学意义(H=21.232,P<0.05);2)6月龄、1岁、2岁、3岁儿童中,中等水平的身高及体重占比最多,身高占比分别为70.7%、65.9%、68.3%、68.3%,中等体重占比分别为78.0%、73.2%、75.6%、73.2%;3)不同年龄,不同类型的PKU患儿的体格、神经心理发育水平比较,差异无统计学意义(P>0.05);4)神经心理发育水平与PKU患儿的确诊及治疗时间、确诊血苯丙氨酸浓度、饮食控制指数呈负相关(r= -0.601、-0.838、-0.792,P<0.05)。结论 经饮食治疗并规范随访的PKU患儿可维持正常的体格发育及神经心理发育水平,神经心理发育水平受诊治时间及血液苯丙氨酸浓度的影响。

关键词: 苯丙酮尿症, 饮食治疗, 神经心理发育, 儿童