摘要

The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients. Working group members were appointed by the Mitochondrial Medicine Society. The panel included members with several different areas of expertise. The panel members utilized surveys and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve. Consensus-based recommendations are provided for the routine care and management of patients with primary genetic mitochondrial disease.

译文

本声明的目的是为原发性线粒体疾病患者的最佳管理和护理提供基于共识的建议。本声明面向从事这些患者诊断和管理的医生。工作组成员由线粒体医学协会任命。该小组包括具有几个不同专业领域的成员。小组成员利用调查和德尔菲法达成共识。我们预计,随着该领域的不断发展,这一声明将需要更新。为原发性遗传性线粒体疾病患者的常规护理和管理提供了基于共识的建议。

Mitochondrial disease

内分泌 线粒体功能失调 疾病
概述  :  

线粒体疾病是由线粒体功能失调引起的一组疾病,线粒体是为细胞产生能量的细胞器。线粒体存在于人体除红血球以外的每个细胞中,并将食物分子的能量转化为能支持大多数细胞功能的ATP。线粒体疾病有时具有独特的特征,这既是由于疾病的遗传方式,又是因为线粒体对细胞功能至关重要。这些具有神经肌肉症状的疾病的亚类有时称为线粒体肌病。 病理机制 可用身体能量的有效总能量单位称为每日糖原生成能力,用于比较健康个体与患病或慢性糖原耗竭个体的线粒体输出。

mitochondrial   英 /ˌmaɪtəʊˈkɒndriəl/   美 /ˌmaɪtoʊˈkɑːndriəl/

释    义   adj. 线粒体的

例    句   The technique hasn't been approved for use in human reproduction, but could conceivably be used to prevent hereditary, often-fatal mitochondrial disease.该技术还没有被批准用于人类生殖,但可以设想会用于防止遗传性,这类通常是致命的线粒体疾病。

 

disease   英 /dɪˈziːz/   美 /dɪˈziːz/

释    义   n. 病,[医] 疾病;弊病

               vt. 传染;使…有病

同根词   diseased adj. 不健全的;患病的;病态的

               diseased v. 使生病;传染

例    句   Rat-fleas communicate a disease to man.鼠蚤会把疾病传染给人。

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