用于改善急性肝性卟啉症患者管理的 PICO 问题和 DELPHI 方法。
PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.
机构信息
Servicio de Medicina Interna, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Instituto de Investigación Biomédica de Bellvitge (IDIBELL), Hospitalet de Llobregat, Barcelona, Spain; Departamento de Ciencias Clínicas, Facultad de Medicina y Ciencias de la Salud, Universitat de Barcelona, Barcelona, Spain.
Unidad de Enfermedades Autoinmunes y Minoritarias del Adulto, CSUR de Errores Innatos del Metabolismo del Adulto, Servicio de Medicina Interna, Hospital Universitario Virgen del Rocio, Sevilla, Spain.
出版信息
Rev Clin Esp (Barc). 2024 May;224(5):272-280. doi: 10.1016/j.rceng.2024.04.010. Epub 2024 Apr 18.
BACKGROUND
Acute hepatic porphyrias (AHPs) are a group of rare diseases that encompasses acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and 5-aminolaevulinic acid dehydratase deficiency porphyria. Symptoms of AHP are nonspecific which, together with its low prevalence, difficult the diagnosis and follow-up of these patients.
MATERIAL AND METHODS
This project used DELPHI methodology to answer PICO questions related to management of patients with AHPs. The objective was to reach a consensus among multidisciplinary porhyria experts providing answers to those PICO questions for improving diagnosis and follow-up of patients with AHP.
RESULTS
Ten PICO questions were defined and grouped in four domains: 1. Biochemical diagnosis of patients with AHP. 2. Molecular tests for patients with AHP. 3. Follow-up of patients with AHP. 4. Screening for long-term complications of patients with AHP.
CONCLUSIONS
PICO questions and DELPHI methodology have provided a consensus on relevant and controversial issues for improving the management of patients with AHP.
背景
急性肝性卟啉病（AHP）是一组罕见疾病，包括急性间歇性卟啉病、变异性卟啉病、遗传性粪卟啉病和 5-氨基酮戊酸脱水酶缺乏性卟啉病。AHP 的症状是非特异性的，再加上其发病率低，使得这些患者的诊断和随访变得困难。
材料和方法
本项目使用德尔菲法（Delphi method）回答与 AHP 患者管理相关的 PICO 问题。目的是在多学科卟啉病专家中达成共识，为 PICO 问题提供答案，以改善 AHP 患者的诊断和随访。
结果
定义了 10 个 PICO 问题，并将其分为四个领域：1. AHP 患者的生化诊断。2. AHP 患者的分子检测。3. AHP 患者的随访。4. AHP 患者长期并发症的筛查。
结论
PICO 问题和德尔菲法为改善 AHP 患者的管理提供了共识，解决了相关和有争议的问题。
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