Beebe David, Puram Vikram V, Gajic Srdjan, Thyagarajan Bharat, Belani Kumar G
Department of Anesthesiology, University of Minnesota, Minneapolis, MN, USA.
University of Minnesota Medical School, Minneapolis, MN, USA.
J Anaesthesiol Clin Pharmacol. 2020 Oct-Dec;36(4):552-555. doi: 10.4103/joacp.JOACP_360_19. Epub 2021 Jan 18.
Malignant hyperthermia susceptibility (MHS) and the associated condition malignant hyperthermia (MH) are rare but well-known disorders in the field of anesthesiology. MHS is usually determined by a history of a family member developing a positive episode during general anesthesia and then confirmed by an invasive caffeine halothane contracture test (CHCT). More recently, within the context of MH as a pharmacogenetic disorder, the question of whether or not MHS can be principally genetically determined is of high importance as knowledge of detailed pathogenesis may prevent against its largely invariable lethality if untreated. Thus, in this brief report, genetic terms, as well as updates in the genetics of MHS, will be reviewed in order to better understand both the condition and the current research.
恶性高热易感性（MHS）及相关的恶性高热（MH）是麻醉学领域中罕见但广为人知的疾病。MHS通常通过家族成员在全身麻醉期间发生阳性发作的病史来确定，然后通过侵入性咖啡因氟烷挛缩试验（CHCT）进行确诊。最近，在MH作为一种药物遗传学疾病的背景下，MHS是否主要由基因决定这一问题至关重要，因为如果了解详细的发病机制，可能会预防其在未治疗时几乎不可避免的致死性。因此，在本简要报告中，将对遗传学相关术语以及MHS遗传学的最新进展进行综述，以便更好地了解该疾病及当前的研究情况。
