Our lives with PKU: German patient voices - “Nothing about us without us”

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-03-04 DOI:10.1016/j.ymgmr.2025.101201

Karin Lange , Jens Böhmer , Yvonne Deich , Daniel Dickneite , Pascale Fuchs , Verena Naunheim , Angelika Scholz , Christian Heimbold

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引用次数: 0

Abstract

Objectives

Many publications describe experiences of healthcare professionals (HCPs) on managing phenylketonuria (PKU), but literature on the perspectives of individuals with PKU is limited. Nevertheless, patient insights and strategies to address challenges of living with PKU can provide guidance to HCPs and the PKU community to further optimise PKU care.

Methods

A virtual meeting was held to elucidate the lived experience of patients with PKU and brainstorm best practice recommendations from the patient perspective. The meeting was moderated by a psychologist and attended by seven adults with PKU and one caregiver. Based on the outcomes of this meeting and subsequent online rating rounds, consensus statements (≥75 % agreement) reflecting patient focused considerations were developed using a modified Delphi approach.

Results

Consensus was reached for 18 statements on five topics: the PKU diet, experience with HCPs throughout life, impact of PKU on everyday life, connecting with the PKU community, and future aspirations to facilitate life with PKU.

To minimise the burden of diet, avoidance of hunger and offering new treatment options were identified, together with adequate education and support. Maintaining metabolic control throughout adulthood could be facilitated by easier access to clinics beyond in-person visits and by availability of treatment teams specifically equipped to provide PKU-adult care. To further support adults in reaching target blood Phe concentrations and personal goals, pegvaliase can be offered to those eligible. Finally, exchanging experiences with others from the PKU community through social media and live/virtual meetings may help individuals with PKU and caregivers to improve their knowledge and skills to manage PKU.

Conclusion

These consensus statements provide unique insights on how challenges faced by individuals with PKU may be addressed and may provide guidance to HCPs as well as the PKU community and caregivers on ways to improve patient care and support.

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我们在北大的生活：德国病人的声音-“没有我们就没有我们”

许多出版物描述了医疗保健专业人员（HCPs）管理苯丙酮尿症（PKU）的经验，但关于PKU患者观点的文献有限。然而，患者的见解和应对PKU生活挑战的策略可以为HCPs和PKU社区提供指导，以进一步优化PKU护理。方法召开虚拟会议，阐述PKU患者的生活经验，并从患者的角度集思广益，提出最佳实践建议。会议由一位心理学家主持，七名患有PKU的成年人和一名护理人员参加。基于这次会议和随后的在线评分轮次的结果，使用改进的德尔菲法制定了反映以患者为中心的考虑的共识声明（≥75%的同意）。结果就5个主题达成了18项共识：北京大学的饮食、一生中与HCPs的经历、北京大学对日常生活的影响、与北京大学社区的联系以及未来在北京大学生活的愿望。为了尽量减少饮食负担，确定了避免饥饿和提供新的治疗方案，以及适当的教育和支持。在整个成年期保持代谢控制可以通过更容易地进入诊所而不是亲自就诊和通过专门配备的治疗团队提供pku -成人护理来促进。为了进一步支持成人达到血液Phe目标浓度和个人目标，pegvaliase可提供给符合条件的人。最后，通过社交媒体和实时/虚拟会议与北大社区的其他人交流经验，可以帮助北大患者和护理人员提高他们管理北大的知识和技能。结论：这些共识声明为如何应对PKU患者面临的挑战提供了独特的见解，并为HCPs、PKU社区和护理人员提供了改善患者护理和支持的指导。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.