Alptekin Ismail Mucahit, Koc Nevra, Gunduz Mehmet, Cakiroglu Funda Pinar
Ankara University, Faculty of Health Sciences, Department of Nutrition and Dietetics, Turkey.
Ankara Hematology Oncology Children's Training and Research Hospital, Department of Metabolism, Turkey.
Clin Nutr ESPEN. 2018 Oct;27:79-85. doi: 10.1016/j.clnesp.2018.06.005. Epub 2018 Jun 29.
BACKGROUND & AIMS: Phenylketonuria (PKU) has a very high prevalence throughout the world. Nowadays, number of studies about impact of this metabolic disease on patients increasing. The aim of our study is to examine PKU patients' quality of life according to PKU-QOL questionnaires.
Patients (n = 63) diagnosed with PKU were included this study; child (9-11 years (n = 20)), adolescent (12-15 years (n = 22)) and adult (18-35 years (n = 21)). PKU-QOL questionnaires (include 4 modules) developed for PKU patients were used. In accordance with purpose, data were analysed by nonparametric tests (Kruskal Wallis One-Way Analysis of Variance Test and Mann-Whitney U Test), according to results of normality tests.
Most of the individuals were female (65,1%) and mean age was 15,7 ± 6,4 years. Symptoms; there were statistically significant differences in all domains excluding tiredness. Especially, median score of slow thinking was very frequent symptom in children as 100,0. PKU in general; there were found that median scores were higher in children. Phe-free amino acid supplement administration: as the age increased, scores were lower. Dietary protein restriction: Overall difficulty following dietary protein restriction and Food enjoyment were found similar in groups (p > 0,05).
It was concluded that PKU affects younger people more negatively.
苯丙酮尿症（PKU）在全球范围内具有很高的发病率。如今，关于这种代谢性疾病对患者影响的研究数量不断增加。我们研究的目的是根据苯丙酮尿症生活质量（PKU-QOL）问卷来检查PKU患者的生活质量。
本研究纳入了63例被诊断为PKU的患者；儿童（9 - 11岁，n = 20）、青少年（12 - 15岁，n = 22）和成人（18 - 35岁，n = 21）。使用了为PKU患者开发的PKU-QOL问卷（包括4个模块）。根据正态性检验结果，按照研究目的，采用非参数检验（Kruskal Wallis单因素方差分析检验和Mann-Whitney U检验）对数据进行分析。
大多数个体为女性（65.1%），平均年龄为15.7±6.4岁。症状方面：除疲劳外，所有领域均存在统计学显著差异。特别是，思维迟缓的中位数得分在儿童中是非常常见的症状，为100.0。总体而言，PKU在儿童中的中位数得分较高。无苯丙氨酸氨基酸补充剂的使用：随着年龄的增加，得分较低。饮食蛋白质限制：各组在遵循饮食蛋白质限制的总体难度和食物享受方面相似（p > 0.05）。
得出的结论是，PKU对年轻人的负面影响更大。
