MAPI Consultancy, Houten, The Netherlands.
Mol Genet Metab. 2013 Jul;109(3):237-42. doi: 10.1016/j.ymgme.2013.05.003. Epub 2013 May 10.
Phenylketonuria (PKU) is a rare inborn error of metabolism that affects the ability of patients to metabolise phenylalanine (Phe). Lifelong management of blood Phe levels is required in order to avoid the complications associated with PKU. This constitutes a severely protein restricted diet, and regular monitoring of Phe levels. Management of PKU may be costly and time-consuming for adult patients or caregivers of PKU-affected children. A cross-sectional study was performed with patients or their caregivers in the Netherlands to gain insight into the personal time burden and cost of living with PKU.
A systematic literature review was performed to identify all aspects of PKU management that may pose a financial or time burden on patients or caregivers. Findings were confirmed through interviews with PKU experts and feedback from patients and caregivers, and consolidated into a questionnaire that aimed to evaluate the impact of each of these factors. Early and continuously treated adult patients and caregivers from seven metabolic centres were recruited to complete the questionnaire online.
22 adult patients and 24 caregivers participated in the study. Managing a Phe-restricted diet represented an extra time burden of 1 h and 24 min for caregivers and 30 min for adult patients per day. Caregivers reported a significantly higher time burden than adult patients. The median total out-of-pocket cost (OOPC) for patients was €604 annually, with 99% of expenditure on low-protein food products. Greater disease severity was significantly associated with increased OOPC and time burden for both adult patients and caregivers.
Management of PKU is associated with a considerable time burden for both caregivers of children with PKU and adult patients. Caregivers of PKU-affected children reported a significantly higher time burden than adult patients. The OOPC of caregivers and patients was mainly driven by the expenditure on low protein food.
苯丙酮尿症（PKU）是一种罕见的代谢性遗传疾病，会影响患者代谢苯丙氨酸（Phe）的能力。为了避免与 PKU 相关的并发症，患者需要终身控制血液 Phe 水平。这就需要他们遵循严格限制蛋白质的饮食，并定期监测 Phe 水平。成年患者或 PKU 患儿的照顾者在管理 PKU 方面可能需要付出高昂的时间和经济成本。本研究在荷兰开展了一项横断面研究，旨在了解 PKU 患者或其照顾者的个人时间负担和生活成本。
系统检索了与 PKU 管理相关的所有方面，以确定这些方面是否会给患者或照顾者带来经济或时间负担。通过与 PKU 专家访谈以及征求患者和照顾者的反馈，对研究结果进行了确认，并将这些发现整合到一个旨在评估这些因素对患者和照顾者影响的问卷中。该问卷由来自 7 家代谢中心的早期持续治疗的成年患者和照顾者在线填写。
共有 22 名成年患者和 24 名照顾者参与了本研究。对于照顾者来说，管理低 Phe 饮食会额外增加 1 小时 24 分钟的时间负担，而成年患者则需要额外 30 分钟。照顾者的时间负担明显高于成年患者。患者的年总自付费用（OOPC）中位数为 604 欧元，其中 99%用于低蛋白食品。疾病严重程度较高与成年患者和照顾者的 OOPC 和时间负担增加显著相关。
PKU 的管理对 PKU 患儿的照顾者和成年患者来说都是一个沉重的负担。与成年患者相比，PKU 患儿的照顾者报告的时间负担要重得多。照顾者和患者的 OOPC 主要由低蛋白食品的支出驱动。
