Guo Yi, Hong Si-Qi, Jiang Li
Department of Neurology, Children's Hospital, Chongqing Medical University, Chongqing 400014, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Nov;20(11):887-892. doi: 10.7499/j.issn.1008-8830.2018.11.002.
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.
原发性线粒体疾病是最常见的先天性代谢缺陷病,在临床表现和遗传模式方面具有高度异质性。其死亡率和致残率很高。该疾病常累及多个系统,因此有必要进行全面评估和多学科管理。线粒体医学协会发布了原发性线粒体疾病患者管理标准:线粒体医学协会2017年共识声明。这些声明基于此类共识提供了建议,以指导患者的管理和护理。本文根据该共识对原发性线粒体疾病常见累及的器官和系统筛查以及患者管理进行解读和总结。