早期治疗的苯丙酮尿症青少年和年轻成人的管理：使用改良 Delphi 方法制定国际共识建议。

Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.

机构信息

Ann and Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Clinical University Hospital of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Institute of Clinical Research of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.

出版信息

Mol Genet Metab. 2022 Sep-Oct;137(1-2):114-126. doi: 10.1016/j.ymgme.2022.07.012. Epub 2022 Jul 29.

DOI:10.1016/j.ymgme.2022.07.012

PMID:36027720

Abstract

BACKGROUND

Early treated patients with phenylketonuria (PKU) often become lost to follow-up from adolescence onwards due to the historical focus of PKU care on the pediatric population and lack of programs facilitating the transition to adulthood. As a result, evidence on the management of adolescents and young adults with PKU is limited.

METHODS

Two meetings were held with a multidisciplinary international panel of 25 experts in PKU and comorbidities frequently experienced by patients with PKU. Based on the outcomes of the first meeting, a set of statements were developed. During the second meeting, these statements were voted on for consensus generation (≥70% agreement), using a modified Delphi approach.

RESULTS

A total of 37 consensus recommendations were developed across five areas that were deemed important in the management of adolescents and young adults with PKU: (1) general physical health, (2) mental health and neurocognitive functioning, (3) blood Phe target range, (4) PKU-specific challenges, and (5) transition to adult care. The consensus recommendations reflect the personal opinions and experiences from the participating experts supported with evidence when available. Overall, clinicians managing adolescents and young adults with PKU should be aware of the wide variety of PKU-associated comorbidities, initiating screening at an early age. In addition, management of adolescents/young adults should be a joint effort between the patient, clinical center, and parents/caregivers supporting adolescents with gradually gaining independent control of their disease during the transition to adulthood.

CONCLUSIONS

A multidisciplinary international group of experts used a modified Delphi approach to develop a set of consensus recommendations with the aim of providing guidance and offering tools to clinics to aid with supporting adolescents and young adults with PKU.

摘要

背景

由于苯丙酮尿症（PKU）的治疗通常从青春期开始，PKU 护理的历史重点是儿科人群，缺乏促进向成年期过渡的计划，因此，PKU 青少年和年轻人的管理证据有限。

方法

与 PKU 及 PKU 患者常伴发的多种合并症的 25 名多学科国际专家组成了一个小组，先后召开了两次会议。根据第一次会议的结果，制定了一系列陈述。在第二次会议上，采用改良 Delphi 方法对这些陈述进行了投票，以达成共识（≥70%的一致意见）。

结果

在五个领域制定了 37 项共识建议，这些领域被认为在 PKU 青少年和年轻人的管理中很重要：（1）一般身体健康，（2）心理健康和神经认知功能，（3）血液 Phe 目标范围，（4）PKU 特有的挑战，（5）向成人护理过渡。这些共识建议反映了参与专家的个人意见和经验，并在有证据支持的情况下支持。总体而言，管理 PKU 青少年和年轻人的临床医生应该了解广泛的与 PKU 相关的合并症，应在早期开始进行筛查。此外，青少年/年轻人的管理应该是患者、临床中心和父母/照顾者之间的共同努力，支持青少年在向成年过渡期间逐渐获得对疾病的独立控制。