Haugen Tonje, Toft Mathias, Müller Clemens R, Aasly Jan
Department of Public Health, University of North Florida, USA.
Tidsskr Nor Laegeforen. 2005 Oct 20;125(20):2792-4.
Malignant hyperthermia is a rare and possibly life-threatening complication to anaesthesia. It manifests in susceptible individuals as a hypermetabolic response on exposure to halogenated anaesthetics and depolarising muscle relaxants. Susceptibility to malignant hyperthermia is inherited as an autosomal dominant disorder and is associated with myopathies.
We present a Norwegian family with central core disease and malignant hyperthermia susceptibility. A novel mutation (c.14558C>T) in the ryanodine receptor gene (RYR1), causing an amino acid change of a highly conserved residue (Thr4853Ile), has been identified in this family. We present a review of the literature on this disorder.
Modern medical treatment, including the use of dantrolene, has significantly reduced the mortality of malignant hyperthermia. The identification of susceptibility to malignant hyperthermia in patients can possibly further reduce the risk of death during and after anaesthesia. A contracture test of muscular tissue is performed in patients with suspected malignant hyperthermia and should be considered in family members. Molecular genetic examinations might be considered in some cases.
恶性高热是一种罕见且可能危及生命的麻醉并发症。在易感个体中，接触卤化麻醉剂和去极化肌肉松弛剂时会表现为高代谢反应。恶性高热易感性作为常染色体显性疾病遗传，且与肌病相关。
我们展示了一个患有中央轴空病和恶性高热易感性的挪威家族。在这个家族中已鉴定出兰尼碱受体基因（RYR1）的一个新突变（c.14558C>T），该突变导致一个高度保守残基（Thr4853Ile）的氨基酸改变。我们对关于该疾病的文献进行了综述。
包括使用丹曲林在内的现代医学治疗已显著降低了恶性高热的死亡率。在患者中识别恶性高热易感性可能会进一步降低麻醉期间及之后的死亡风险。对疑似恶性高热的患者进行肌肉组织挛缩试验，对其家庭成员也应考虑进行该试验。在某些情况下可考虑进行分子遗传学检查。
