2022年中国尿素循环障碍诊断、治疗和管理指南

标题: 2022年中国尿素循环障碍诊断、治疗和管理指南
title: Guidelines for diagnosis, treatment and management of urea cycle disorders in China in 2022
版本: 原创版
version: Original
分类: 标准指南
classification: Standard guideline
领域: 综合
field: Comprehensive guideline
国家和地区: 中国
Country and region: China
指南使用者: 临床儿科医师、遗传科医师,神经科医师等
Guide users: Clinical pediatricians, geneticists, neurologists, etc.
证据分级方法: The guideline involves the determination of clinical problems: the expert group will score the importance of the clinical problems involved in the guideline and judge its importance Evidence grading method: GREAD evidence grading method, divided into high, medium, low, and very low. The expert group evaluates the research evidence corresponding to the clinical problem; the recommendation opinions of the relevant items are completed according to the strength of the evidence: strong recommendation, recommendation and suggestion For related issues that are not supported by clinical evidence: the expert group will discuss and reach a consensus, and also complete the recommendations of related items: strong recommendations, recommendations and suggestions
Evidence grading method: 指南涉及临床问题确定:由专家组对指南所涉及的临床问题的重要性进行评分,判断其重要性 证据评级方法:GREAD证据分级方法,分高、中、低、极低四级,专家组分别对临床问题对应的研究证据进行评估;根据证据强度完成相关条目的推荐意见:强烈推荐、推荐及建议 对于无临床证据支持的相关问题:由专家组进行讨论并达成共识,同样完成相关条目的推荐意见:强烈推荐、推荐及建议
制定单位: 中国罕见病联盟
Formulating unit: China rare diseases Alliance
注册时间: 2021-09-13
Registration time:
注册编号: IPGRP-2021CN295
Registration number:
指南制订的目的: 中国UCDs患者还存在未满足医疗需求,属于罕见病,临床误诊、诊断延迟较多,致死、致残率高,无规范化长期管理。期望通过制定该指南为中国UCDs规范化管理提供参考依据。
Purpose of the guideline: Patients with UCDs in China still have unmet medical needs, which are rare diseases, clinical misdiagnosis, diagnosis delays, high mortality and disability rates, and no standardized long-term management. We hope to facilitate the standard management of UCDs by refer this new guidelines.