Department of Anaesthesia and Intensive Care Medicine, University of Basel, Basel, Switzerland.
Swiss Med Wkly. 2012 Jul 31;142:w13652. doi: 10.4414/smw.2012.13652. eCollection 2012.
Malignant hyperthermia (MH) is a subclinical myopathy, usually triggered by volatile anaesthetics and depolarising muscle relaxants. Clinical symptoms are variable, and the condition is sometimes difficult to identify. Nevertheless, rapid recognition and specific as well as symptomatic treatment are crucial to avoid a lethal outcome. Molecular genetic investigations have confirmed the skeletal muscle type ryanodine receptor to be the major MH locus with more than 70% of MH families carrying a mutation in this gene. There is no screening method to test for MH, as current tests are invasive (open muscle biopsy) or restricted to MH families with known MH-associated mutations (molecular genetic testing). The prevalence of the MH trait is unknown, because the clinical penetrance after contact with triggering agents is very variable. More recently, MH mutations have been associated with rhabdomyolysis following statin therapy or with non-pharmacological triggering, such as exertional heat stroke.
恶性高热（MH）是一种亚临床肌病，通常由挥发性麻醉剂和去极化肌松剂引发。临床症状多种多样，且病情有时难以识别。然而，快速识别以及特异性和对症治疗对于避免致命结局至关重要。分子遗传学研究证实，骨骼肌型兰尼碱受体是 MH 的主要基因座，超过 70%的 MH 家族在该基因中携带突变。目前尚无用于 MH 检测的筛查方法，因为现有检测方法具有侵袭性（开放性肌肉活检）或仅限于具有已知 MH 相关突变的 MH 家族（分子遗传学检测）。MH 特征的流行率尚不清楚，因为接触触发剂后的临床外显率差异很大。最近，MH 突变与他汀类药物治疗后的横纹肌溶解症或非药理学触发因素（如运动性热射病）相关。
