新生儿线粒体病诊断与治疗专家共识

标题: 新生儿线粒体病诊断与治疗专家共识
title: Expert consensus on diagnosis and treatment of neonatal mitochondrial diseases
版本: 原创版
version: Original
分类: 专家共识
classification: Experts consensus
领域: 诊疗
field: Diagnosis and Treatment
国家和地区: 中国
Country and region: China
指南使用者: 新生儿医师
Guide users: Neonatologist
证据分级方法: 证据质量分为高 (A)、中 (B)、低 (C) 和极低(D)4 个等级,推荐强度分为强推荐(1)、弱推荐(2) 和 高 质 量 临 床 实 践 声 明 (good practice statement, GPS)3个等级
Evidence grading method: The quality of evidence was classified as high (A), medium (B), low (C), and very low (D) 4 levels; the recommendation intensity is divided into strong recommendation (1), weak recommendation (2) good practice with high quality bedside practice statement, GPS) 3 levels.
制定单位: 广东医科大学附属医院
Formulating unit: Affiliated Hospital of Guangdong Medical University
注册时间: 2024-07-17
Registration time:
注册编号: PREPARE-2024CN013
Registration number:
指南制订的目的: 新生儿线粒体病发病率低,临床表现缺乏特异性,易被误诊、漏诊。尽管国内外陆续发表了许多有关新生儿线粒体病的个案报道,但目前尚无疾病诊治的有关共识或指南。制定本共识目的是进一步规范新生儿线粒体病的诊断与治疗。
Purpose of the guideline: The incidence of neonatal mitochondrial disease is low, the clinical manifestations lack specificity, and it is easy to be misdiagnosed and missed diagnosis. Although many cases of neonatal mitochondrial disease have been reported at home and abroad, there is no consensus or guideline on the diagnosis and treatment of the disease. The purpose of developing this consensus is to further standardize the diagnosis and treatment of neonatal mitochondrial diseases.