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[恶性高热]

[Malignant hyperthermia].

作者信息

Zimprich Fritz, Kress Hans Georg, Zeitlhofer Josef

机构信息

Universitätsklinik für Neurologie, Wien, Osterreich.

出版信息

Wien Klin Wochenschr. 2003 Sep 15;115(15-16):556-62. doi: 10.1007/BF03040449.

Abstract

Malignant hyperthermia is an autosomal dominant disorder of the skeletal muscle that predisposes affected individuals to a life-threatening hypermetabolic reaction in response to volatile anaesthetics and depolarizing muscle relaxants. The underlying heterogeneous genetic defects are mainly point mutations within the ryanodine receptor gene of the sarcoplasmic reticulum. Following the introduction of efficient diagnostic and therapeutic tools--the in vitro contracture test and intravenous treatment with dantrolene--a dramatic decline in mortality rates has been observed. The association of malignant hyperthermia-like reactions with other neuromuscular disorders requires the collaboration of several clinical disciplines to achieve a timely recognition of this still life-threatening disorder.

摘要

恶性高热是一种常染色体显性遗传性骨骼肌疾病,使受累个体在接触挥发性麻醉剂和去极化肌松药时易发生危及生命的代谢亢进反应。潜在的异质性基因缺陷主要是肌浆网兰尼碱受体基因内的点突变。随着有效诊断和治疗工具——体外挛缩试验和丹曲林静脉治疗的引入,死亡率已显著下降。恶性高热样反应与其他神经肌肉疾病的关联需要多个临床学科的协作,以便及时识别这种仍然危及生命的疾病。

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