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因偶然发现与恶性高热相关的基因变异而对一名接受冠状动脉搭桥术患者的麻醉管理进行的变更

Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia.

作者信息

Creech Trey B, Zhang Li

机构信息

Anesthesiology Department, Geisinger Medical Center, Danville, PA, USA.

出版信息

Case Rep Anesthesiol. 2019 Mar 19;2019:3189719. doi: 10.1155/2019/3189719. eCollection 2019.

Abstract

Malignant hyperthermia (MH) is a rare life-threatening hypermetabolic muscular disorder with a high mortality rate. Three genes, , , and , have been associated with MH susceptibility. Multiple genetic variants have been identified in these three genes. Some of those variants were pathogenic, but many others are yet to be tested. Such uncertainty can make it challenging for anesthesia providers as there is currently no anesthesia guideline for each genetic variant in patients who have neither clinical nor family history of MH. With the increasing popularity of whole exome sequencing, anesthesia providers will likely face such challenges more often as many patients may have genetic variations of unknown clinical significance in their , , or genes. Here we describe change of anesthesia management for a patient who had an incidental finding of a genetic variant in gene undergoing an elective coronary artery bypass surgery.

摘要

恶性高热(MH)是一种罕见的、危及生命的高代谢性肌肉疾病,死亡率很高。三个基因,即[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]和[此处原文缺失具体基因名称],与MH易感性相关。在这三个基因中已鉴定出多个基因变体。其中一些变体是致病性的,但许多其他变体尚未经过检测。这种不确定性可能给麻醉提供者带来挑战,因为目前对于既无MH临床病史也无家族病史的患者,尚无针对每个基因变体的麻醉指南。随着全外显子组测序越来越普及,麻醉提供者可能会更频繁地面临此类挑战,因为许多患者的[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]或[此处原文缺失具体基因名称]基因可能存在临床意义未知的基因变异。在此,我们描述了一名在接受择期冠状动脉搭桥手术时偶然发现[此处原文缺失具体基因名称]基因存在基因变异的患者的麻醉管理变化。

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