对线粒体医学会原发性线粒体病患者管理标准专家共识的解读

An interpretation of the expert consensus on standards for the management of patients with primary mitochondrial disease from the Mitochondrial Medicine Society

摘要:

原发性线粒体病是最常见的先天性代谢缺陷，临床表现及遗传方式具有高度的异质性，致死及致残率高。该病常见多系统受累，非常有必要进行全面评估及多学科管理。线粒体医学会（MMS）2017年发表《原发性线粒体病患者管理标准：线粒体医学会共识声明》，给出基于共识的推荐意见，用于指导该病患者的常规管理及护理。该文主要根据该共识对原发性线粒体病常见受累器官系统的筛查及管理进行解读和总结。

Abstract:

Primary mitochondrial disease is the most common inborn error of metabolism and is highly heterogeneous in terms of clinical manifestations and inheritance pattern. It has high mortality and disability rates. Multiple systems are often involved in this disease, and it is necessary to perform comprehensive evaluation and multidisciplinary management. The Mitochondrial Medicine Society issued the standard for the management of patients with primary mitochondrial disease:consensus statements from the Mitochondrial Medicine Society in 2017. The statements provided recommendations based on such consensus to guide the management and care of patients. This article interprets and summarizes the screening of organs and systems commonly involved in primary mitochondrial disease and the management of patients according to the consensus.