Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
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DOI：
10.1186/s13023-015-0294-x
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发表时间：
2015-06-18
影响因子：
3.7
通讯作者：
Regnault, Antoine
中科院分区：
文献类型：
--
作者：
Bosch, Annet M.;Burlina, Alberto;Regnault, Antoine
背景：北京大学从小接受严格严格的饮食治疗和轻微的认知异常，预计会影响患者及其家人的健康相关生活质量(HRQOL)。我们的目的是描述来自一项大型国际研究的北京大学患者的HRQL，使用通用的HRQOL测量和创新的北大特有的HRQOL问卷(PKU-QOL)。研究方法：在法国、德国、意大利、荷兰、西班牙、土耳其和英国进行的一项多中心、前瞻性、非干预性观察性研究。被诊断患有PKU的患者年龄=9岁，并接受限制Phe饮食和/或不含Phe的氨基酸蛋白质补充剂和/或药物治疗；至少一名PKU患者的父母也包括在内。采用一般量表(儿科生活质量量表、医学结局调查36项简表、儿童健康问卷28项父母表)和新近编制的北京大学生活质量量表进行评估。使用公布的来自普通人群的参考值来解释平均通用领域得分。根据PKU的严重程度、调查者对患者健康状况的总体评估和四氢生物蝶呤(BH4)的治疗，对不同亚组患者的PKU-QOL得分进行总体描述。结果：分析了559名患者的数据：306名患者(92名儿童、110名青少年、104名成人)和253名家长。研究中一般测量的平均领域得分与一般人群相当。最高的PKU-QOL影响分数(表明影响更大)是PKU的情绪影响、对血液Phe水平的焦虑、对不遵守饮食限制或不含Phe的氨基酸补充剂的内疚以及对怀孕期间血液Phe水平的焦虑。轻度/中度PKU患者和接受BH4治疗的患者报告饮食和不含Phe的氨基酸补充剂的实际和情感影响较低。结论：在研究中，PKU患者无论是通用的还是特定的PKU测量方法都显示出良好的HRQOL。PKU对患者生活的负面影响，包括PKU及其管理的情感影响，由所有年龄段的PKU-QOL描绘。
Background: The strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated from a young age can be expected to affect the health-related quality of life (HRQoL) of patients and their families. Our aim was to describe the HRQoL of patients with PKU from a large international study, using generic HRQoL measures and an innovative PKU-specific HRQoL questionnaire (PKU-QOL). Analyses were exploratory, performed post-hoc on data collected primarily to validate the PKU-QOL.Methods: A multicentre, prospective, non-interventional, observational study conducted in France, Germany, Italy, The Netherlands, Spain, Turkey and the UK. Patients diagnosed with PKU aged >= 9 years old and treated with a Phe-restricted diet and/or Phe-free amino acid protein supplements and/or pharmacological therapy were included in the study; parents of at least one patient with PKU aged < 18 years were also included. HRQoL was assessed by generic measures (Pediatric Quality-of-Life Inventory; Medical Outcome Survey 36 item Short Form; Child Health Questionnaire 28 item Parent Form) and the newly developed PKU-QOL. Mean generic domain scores were interpreted using published reference values from the general population. PKU-QOL domain scores were described overall and in different subgroups of patients defined according to severity of PKU, overall assessment of patient's health status by the investigator and treatment with tetrahydrobiopterin (BH4).Results: Data from 559 subjects were analysed: 306 patients (92 children, 110 adolescents, 104 adults) and 253 parents. Mean domain scores of generic measures in the study were comparable to the general population. The highest PKU-QOL impact scores (indicating greater impact) were for emotional impact of PKU, anxiety about blood Phe levels, guilt regarding poor adherence to dietary restrictions or Phe-free amino acid supplement intake and anxiety regarding blood Phe levels during pregnancy. Patients with mild/moderate PKU and those receiving BH4 reported lower practical and emotional impacts of the diet and Phe-free amino acid supplement intake.Conclusion: Patients with PKU showed good HRQoL in the study, both with the generic and PKU-specific measures. Negative impacts of PKU on a patient's life, including the emotional impact of PKU and its management, was delineated by the PKU-QOLs across all age groups.