Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Department of Pharmacology & Physiology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
Clin Pharmacol Ther. 2019 Jun;105(6):1338-1344. doi: 10.1002/cpt.1319. Epub 2019 Jan 24.
The identification in a patient of 1 of the 50 variants in the RYR1 or CACNA1S genes reviewed here should lead to a presumption of malignant hyperthermia susceptibility (MHS). MHS can lead to life-threatening reactions to potent volatile anesthetic agents or succinylcholine. We summarize evidence from the literature supporting this association and provide therapeutic recommendations for the use of these agents in patients with these RYR1 or CACNA1S variants (updates at https://cpicpgx.org/guidelines and www.pharmgkb.org).
如果在患者中鉴定出这里所回顾的 RYR1 或 CACNA1S 基因中的 50 种变体之一,应推定该患者具有恶性高热易感性(MHS)。MHS 可导致对强效挥发性麻醉剂或琥珀酰胆碱产生危及生命的反应。我们总结了文献中的证据,以支持这种关联,并为在具有这些 RYR1 或 CACNA1S 变体的患者中使用这些药物提供治疗建议(更新网址为 https://cpicpgx.org/guidelines 和 www.pharmgkb.org)。