Malignant hyperthermia.
Malignant hyperthermia.
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DOI：
10.4097/kjae.2012.63.5.391
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发表时间：
2012-11
影响因子：
2.9
通讯作者：
Kim DC
中科院分区：
文献类型：
--
作者：
Kim DC
恶性高热（MH）是一种罕见的、危及生命的骨骼肌药物遗传学疾病。它表现为易感个体对强效挥发性麻醉剂（含/不含去极化肌松剂）的代谢亢进反应；在极少数情况下，会因劳累或热应激而产生压力。恶性高热（MHS）的易感性是常染色体显性遗传，具有可变的表达和不完全的外显率。已知 MH 的病理生理学与肌浆钙不受控制的升高有关，肌浆钙激活生化过程，导致骨骼肌代谢亢进。在大多数情况下，兰尼碱受体的缺陷是导致 MH 钙调节功能变化的原因，位于染色体 19q13.1 上的 RYR1 基因已鉴定出 300 多个突变。 MH 的典型症状包括呼气末二氧化碳增加、心动过速、骨骼肌强直、心动过速、体温过高和酸中毒。迄今为止，肌肉挛缩试验被认为是诊断MHS的金标准，但分子遗传学检测在诊断MHS方面的基础有限。由于引入丹曲林钠治疗 MH、使用二氧化碳图早期发现 MH 发作以及引入 MHS 诊断测试，MH 的死亡率从 70-80% 急剧下降至 5% 以下。本综述总结了 MH 的临床基本知识和重要知识，并介绍了该领域的新进展。
Malignant hyperthermia (MH) is an uncommon, life-threatening pharmacogenetic disorder of the skeletal muscle. It presents as a hypermetabolic response in susceptible individuals to potent volatile anesthetics with/without depolarizing muscle relaxants; in rare cases, to stress from exertion or heat stress. Susceptibility to malignant hyperthermia (MHS) is inherited as an autosomally dominant trait with variable expression and incomplete penetrance. It is known that the pathophysiology of MH is related to an uncontrolled rise of myoplasmic calcium, which activates biochemical processes resulting in hypermetabolism of the skeletal muscle. In most cases, defects in the ryanodine receptor are responsible for the functional changes of calcium regulation in MH, and more than 300 mutations have been identified in the RYR1 gene, located on chromosome 19q13.1. The classic signs of MH include increase of end-tidal carbon dioxide, tachycardia, skeletal muscle rigidity, tachycardia, hyperthermia and acidosis. Up to now, muscle contracture test is regarded as the gold standard for the diagnosis of MHS though molecular genetic test is used, on a limited basis so far to diagnose MHS. The mortality of MH is dramatically decreased from 70-80% to less than 5%, due to an introduction of dantrolene sodium for treatment of MH, early detection of MH episode using capnography, and the introduction of diagnostic testing for MHS. This review summarizes the clinically essential and important knowledge of MH, and presents new developments in the field.