Urwyler A, Hartung E
Departement Anästhesie, Universitätsklinik Basel.
Anaesthesist. 1994 Aug;43(8):557-69. doi: 10.1007/s001010050093.
Malignant hyperthermia (MH) is a rare, life-threatening pharmacogenetic disease. The genetic incidence is estimated to be 1:10,000. In predisposed individuals, MH is triggered by volatile anaesthetics and/or depolarizing muscle relaxants by an abnormal increase of intracellular calcium concentration in skeletal muscle cells. The clinical presentation may vary from abortive MH to the fulminant MH crisis. Early diagnosis, the use of electrocardiography and capnography for anaesthetic monitoring, immediate cessation of trigger agents and dantrolene treatment are essential components of an effective MH therapy. In some MH families, a genetic alteration of the ryanodine receptor gene (a calcium channel of the sarcoplasmic reticulum) on chromosome 19 has been identified as the potential cause of MH susceptibility. Recent molecular biological findings support the view of MH being a heterogenetic disease. At present, the diagnosis in potentially MH-susceptible individuals is still made using the in vitro halothane and caffeine muscle contracture test.
恶性高热（MH）是一种罕见的、危及生命的药物遗传学疾病。其遗传发病率估计为1:10000。在易感个体中，挥发性麻醉剂和/或去极化肌松药会引发MH，导致骨骼肌细胞内钙浓度异常升高。临床表现可能从顿挫型MH到暴发型MH危象不等。早期诊断、使用心电图和二氧化碳图进行麻醉监测、立即停用触发药物以及丹曲林治疗是有效MH治疗的重要组成部分。在一些MH家族中，已确定19号染色体上的兰尼碱受体基因（肌浆网的一种钙通道）发生遗传改变是MH易感性的潜在原因。最近的分子生物学研究结果支持MH是一种异质性疾病的观点。目前，仍通过体外氟烷和咖啡因肌肉挛缩试验对潜在的MH易感个体进行诊断。
