目的 了解苯丙酮尿症 （PKU） 患儿的生活质量及其影响因素。方法 以安徽省三家主要妇幼保健机构诊治的104名PKU患儿为研究对象，采用PedsQL^TM 4.0普适性核心量表评价患儿的生活质量。采用多因素logistic回归分析法调查患儿生活质量的影响因素。结果 104名PKU患儿生活质量总评分及其3个维度生理功能、情感功能、社会功能的得分均低于一般在校学龄儿童 （P < 0.01），由情感功能、社会功能和角色功能构成的心理领域得分也低于一般在校学龄儿童 （P < 0.01）。多因素logistic回归分析显示患儿年龄较大 （≥4岁） 是生活质量的危险因素 （OR=8.569，P < 0.01），监护人就职于企事业单位等是生活质量的保护因素 （OR=0.206，P < 0.05）。结论 PKU患儿生活质量水平较低，影响患儿生活质量的主要因素是患儿年龄和监护人职业。

Objective To investigate the factors influencing the quality of life (QOL) of children with phenylketonuria (PKU) in Anhui Province, China. Methods A total of 104 PKU children who were diagnosed and treated in three major maternal and child health hospitals in Anhui Province were enrolled as study subjects. The PedsQL^TM 4.0 Generic Core Scales were used to evaluate the quality of life of these children. The multivariate logistic regression analysis was used to evaluate the factors influencing the QOL. Results The 104 PKU children had significantly lower overall QOL score and scores on the subscales of physiological functioning, emotional functioning, and social functioning than the general school-age children (P < 0.01). They also had a significantly lower score on the physiological domain consisting of emotional functioning, social functioning, and role functioning than the general school-age children (P < 0.01). The multivariate logistic regression analysis showed that an older age (≥ 4 years) of PKU children was the risk factor for poor QOL (OR=8.569, P < 0.01), and guardians' engagement at enterprises or institutions was the protective factor for QOL (OR=0.206, P < 0.05). Conclusions PKU children have a low level of QOL, and age and guardians' occupation are factors influencing the QOL.