Department of Pediatrics, Academic Medical Center (AMC), University of Amsterdam, AZ Amsterdam, The Netherlands.
Orphanet J Rare Dis. 2011 Jun 27;6:48. doi: 10.1186/1750-1172-6-48.
Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism. The inability to convert phenylalanine (Phe) into tyrosine causes Phe to accumulate in the body. Adherence to a protein restricted diet, resulting in reduced Phe levels, is essential to prevent cognitive decline. Frequent evaluation of plasma Phe levels and, if necessary, adjustment of the diet are the mainstay of treatment. We aimed to assess whether increased self-management of PKU patients and/or their parents is feasible and safe, by providing direct online access to blood Phe values without immediate professional guidance.
Thirty-eight patients aged ≥ 1 year participated in a 10 month randomized controlled trial. Patients were randomized into a study group (1) or a control group (2). Group 2 continued the usual procedure: a phone call or e-mail by a dietician in case of a deviant Phe value. Group 1 was given a personal "My PKU" web page with a graph of their recent and previous Phe values, online general information about the dietary treatment and the Dutch PKU follow-up guidelines, and a message-box to contact their dietician if necessary. Phe values were provided on "My PKU" without advice. Outcome measures were: differences in mean Phe value, percentage of values above the recommended range and Phe sample frequency, between a 10-month pre-study period and the study period in each group, and between the groups in both periods. Furthermore we assessed satisfaction of patients and/or parents with the 'My PKU' procedure of online availability.
There were no significant differences in mean Phe value, percentage of values above recommended range or in frequency of blood spot sampling for Phe determination between the pre-study period and the study period in each group, nor between the 2 groups during the periods. All patients and/or parents expressed a high level of satisfaction with the new way of disease management.
Increased self-management in PKU by providing patients and/or parents their Phe values without advice is feasible and safe and is highly appreciated.
The trial was registered with The Netherlands National Trial Register (NTR #1171) before recruitment of patients.
苯丙酮尿症（PKU）是一种常染色体隐性遗传的苯丙氨酸代谢障碍。由于无法将苯丙氨酸（Phe）转化为酪氨酸，导致 Phe 在体内积聚。为了防止认知能力下降，必须坚持限制蛋白质的饮食，从而降低 Phe 水平。频繁评估血浆 Phe 水平，并在必要时调整饮食，是治疗的主要方法。我们旨在评估通过直接在线访问血液 Phe 值而无需即时专业指导，是否可以增加 PKU 患者及其父母的自我管理能力，同时保证其安全性。
38 名年龄≥1 岁的患者参加了一项为期 10 个月的随机对照试验。患者被随机分为研究组（1）或对照组（2）。对照组 2 继续采用常规程序：营养师在出现异常 Phe 值时通过电话或电子邮件联系。研究组 1 则提供了一个个人“我的 PKU”网页，其中包含他们最近和以前的 Phe 值图表、有关饮食治疗和荷兰 PKU 随访指南的在线一般信息，以及一个留言框，以便在必要时与营养师联系。在“我的 PKU”上提供了 Phe 值，但没有提供建议。主要观察指标是：两组在研究前 10 个月和研究期间的平均 Phe 值、超过推荐范围的 Phe 值百分比和 Phe 值样本频率之间的差异，以及两个时期之间的差异。此外，我们评估了患者及其父母对在线获取“我的 PKU”的满意度。
两组在研究前 10 个月和研究期间，以及两个时期之间，平均 Phe 值、超过推荐范围的 Phe 值百分比或 Phe 值样本采集频率均无显著差异。所有患者及其父母均对这种新的疾病管理方式表示高度满意。
通过提供患者及其父母 Phe 值而不提供建议，来增加 PKU 的自我管理是可行且安全的，并且受到高度赞赏。
在招募患者之前，该试验已在荷兰国家试验注册处（NTR #1171）进行了注册。
