Bushueva T V, Vinyarskaya I V, Chernikov V V, Borovik T E, Kuzenkova L M
Vestn Ross Akad Med Nauk. 2014(11-12):39-45. doi: 10.15690/vramn.v69i11-12.1181.
Phenylketonuria (PKU) - the most common inherited disorder of amino acid metabolism, identified in Russia by neonatal screening. The results of dietary treatment demonstrate a positive effect. However, the quality of PKU patients life remains unknown.
The aim of the study was to assess the quality of PKU children life in comparison with their healthy peers, also depending on the treatment onset and the patient's age.
The study involved 64 pairs - PKU child and one of his parents. It was used the common questionnaire survey Pediatric Quality of Life Inventory (PedsQLtm4. 0, Varni et al., USA, 2001) and the program SPSS v. 14.0 (US) for statistical processing of the results.
The statistically significant (p <0.001) differences between PKU patients and healthy children in the physical, emotional, social and role functioning were found. The most pronounced differences were observed in the social (70 points vs 90 respectively) and role (57.5 vs 80 respectively) functioning. Maximum significant correlation (p <0.001) was installed between the social functioning of PKU patients and timing of the dietary treatment. Also the statistically significant interaction (p <0.05) was found between the role functioning, patient's age and treatment onset. The assessment points of social and role functioning were higher (p <0.05) in the PKU patients subgroup with early treatment initiation.
These results confirmed the need of early diagnostics of PKU and initiation of dietary treatment, as well as the organization of timely psychological support for parents of sick children.
苯丙酮尿症（PKU）是最常见的氨基酸代谢遗传性疾病，在俄罗斯通过新生儿筛查得以确诊。饮食治疗的结果显示出积极效果。然而，PKU患者的生活质量仍不明确。
本研究旨在评估PKU儿童与健康同龄人相比之下的生活质量，并探究其与治疗开始时间和患者年龄的关系。
该研究纳入了64对对象——PKU儿童及其父母一方。采用了通用问卷调查《儿童生活质量量表》（PedsQLtm4.0，Varni等人编制，美国，2001年），并使用SPSS v.14.0程序（美国）对结果进行统计处理。
在身体、情感、社会和角色功能方面，PKU患者与健康儿童之间存在统计学显著差异（p<0.001）。在社会功能（分别为70分和90分）和角色功能（分别为57.5分和80分）方面观察到的差异最为明显。PKU患者的社会功能与饮食治疗时间之间存在最大显著相关性（p<0.001）。在角色功能、患者年龄和治疗开始时间之间也发现了统计学显著交互作用（p<0.05）。在早期开始治疗的PKU患者亚组中，社会和角色功能的评估得分更高（p<0.05）。
这些结果证实了对PKU进行早期诊断和开始饮食治疗的必要性，以及为患病儿童的父母提供及时心理支持的重要性。
