Lan Haiyan, Duan Gongchen, Zuo Yunxia, Lou Tianzheng, Xu Junlong, Shao Chuxiao, Wu Jimin
Department of Anesthesiology, Lishui City People's Hospital, The Sixth Affiliated Hospital of Wenzhou Medical University, Lishui, Zhejiang, 323000, China.
Department of Anesthesiology, West China Hospital, Sichuan University, Chengdu, China.
Open Med (Wars). 2023 Oct 17;18(1):20230808. doi: 10.1515/med-2023-0808. eCollection 2023.
Malignant hyperthermia (MH) is an inherited skeletal muscle disorder caused primarily by a genetic mutation, usually in the calcium channel gene of the muscle. This mutation can lead to muscle hypersensitivity to volatile anesthetics (such as sevoflurane) and the depolarizing muscle relaxant succinylcholine, resulting in hyperthermia, muscle stiffness, metabolic disturbances, and other severe physiological reactions. This condition may prove fatal unless it is recognized in its early stages and treatment is administered promptly and aggressively. We report a 13-year-old adolescent who underwent laparoscopic appendectomy and developed MH after the use of inhalational anesthetics, manifested by unremitting hyperthermia with a maximum temperature of 44.2°C, muscle rigidity, tachycardia, hypercapnia; and malignant arrhythmias, cardiogenic shock, hyperkalemia, metabolic, and respiratory acidosis. After early and timely recognition, multidisciplinary management and administration of dantrolene, the case was successfully treated. Exome sequencing revealed a point mutation (amino acid change) on the RYR1 gene: c.12700G>C(p.Val4234Leu). Due to the lack of ready-made dantrolene in our hospital, the patient in this case received dantrolene treatment only 6 h after the first observation of high body temperature. We review the development of the disease and summarize the success of treatment and what can be done to improve the chances of saving the patient's life if dantrolene is not available in time.
恶性高热(MH)是一种遗传性骨骼肌疾病,主要由基因突变引起,通常发生在肌肉的钙通道基因中。这种突变可导致肌肉对挥发性麻醉剂(如七氟烷)和去极化肌肉松弛剂琥珀酰胆碱高度敏感,从而引发高热、肌肉僵硬、代谢紊乱及其他严重的生理反应。除非在早期阶段得以识别并迅速积极地进行治疗,否则这种情况可能会致命。我们报告一名13岁青少年,其接受了腹腔镜阑尾切除术,在使用吸入性麻醉剂后发生了恶性高热,表现为持续高热,最高体温达44.2°C,肌肉强直、心动过速、高碳酸血症;以及恶性心律失常、心源性休克、高钾血症、代谢性和呼吸性酸中毒。经过早期及时识别、多学科管理及给予丹曲林治疗,该病例得以成功救治。外显子组测序显示RYR1基因存在一个点突变(氨基酸改变):c.12700G>C(p.Val4234Leu)。由于我院没有现成的丹曲林,该病例患者在首次观察到高热后6小时才开始接受丹曲林治疗。我们回顾了该疾病的发展过程,总结了治疗的成功经验以及在丹曲林未能及时获得的情况下如何提高挽救患者生命的几率。