Abstract: Objective To analyze the quality of life of 2 to 4-year-old children with phenylketonuria(PKU) and its correlation with phenylalanine (Phe) concentration,in order to provide guidance for clinical treatment. Methods Totally 15 children diagnosed with PKU born from June 2011 to June 2015 were investigated by The Quality of Life Inventory,and the score of Quality of Life Inventory was compared between PKU children and normal children.And the correlation of quality of life with phenylalanine level was analyzed. Results In emotional function dimension,score of item on feeling less sad and depressed in 2 to 4-year-old children with early treatment was significantly lower than that in healthy children(P＜0.01),but the differences on other items of quality of life between the two groups were not significant.Besides,there was no significant correlation between phenylalanine level and quality of life(P＞0.05). Conclusion Early dietary treatment is crucial to improve quality of life of PKU children,and normal phenylalanine level of PKU children may guarantee the good quality of life.

Key words: phenylketonuria, quality of life, phenylalanine level

摘要： 目的 通过对无锡市2~4岁苯丙酮尿症(PKU)儿童生活质量进行调查,并对其与苯丙氨酸(Phe)浓度的关系进行分析,以了解早期饮食治疗的PKU儿童生活质量现状,指导治疗方案。 方法 选取无锡市2011年6月-2015年6月出生经新生儿疾病筛查确诊的PKU患儿15 名,采用儿童生存质量量表(PedsQL^TM)比较其与正常儿童生活质量的差异,并进行生活质量与Phe浓度的相关分析。 结果 出生后即开始严格低苯丙氨酸饮食治疗的2~4岁儿童生活质量中,除了情感功能维度中的感到悲伤与沮丧项目低于正常儿童外(P<0.01),其余维度与正常儿童比较差异无统计学意义;治疗后的Phe水平高低与生活质量无显著相关关系(P＞0.05)。 结论 早期饮食治疗对PKU儿童的生活质量改善至关重要,将Phe控制在一定范围后,其生活质量将不受影响。

关键词: 苯丙酮尿症儿童, 生活质量, 苯丙氨酸浓度