PDF(Pubmed)
Abstract：
BACKGROUND: Malignant hyperthermia (MH) is a rare, life-threatening disorder of calcium homeostasis in skeletal muscle cells that is triggered by volatile anesthetics and succinylcholine, leading to a hypermetabolic reaction. The pathogenic ryanodine receptor 1 (RYR1) gene variant is critical. Patients susceptible to MH should avoid triggering agents, and total intravenous anesthesia (TIVA) is preferred. Remimazolam is safe in patients with suspected MH.
METHODS: We present the first case of remimazolam treatment in a genetically confirmed patient with MH without MH development. A 72-year-old man with a family history of MH underwent remimazolam-based TIVA. After informed consent was obtained, a muscle biopsy and genetic testing were performed. Intraoperatively and postoperatively, the patient exhibited no signs of MH. An enhanced function of the RYR1 channel into releasing calcium was indicated, and the genetic testing revealed a pathogenic variant of RYR1.
CONCLUSIONS: Remimazolam-based TIVA is safe in patients confirming the diagnosis of MH.
METHODS: We present the first case of remimazolam treatment in a genetically confirmed patient with MH without MH development. A 72-year-old man with a family history of MH underwent remimazolam-based TIVA. After informed consent was obtained, a muscle biopsy and genetic testing were performed. Intraoperatively and postoperatively, the patient exhibited no signs of MH. An enhanced function of the RYR1 channel into releasing calcium was indicated, and the genetic testing revealed a pathogenic variant of RYR1.
CONCLUSIONS: Remimazolam-based TIVA is safe in patients confirming the diagnosis of MH.
摘要：
背景：恶性热疗（MH）是一种罕见的，由挥发性麻醉剂和琥珀酰胆碱引发的骨骼肌细胞钙稳态危及生命的疾病，导致高代谢反应.致病性ryanodine受体1（RYR1）基因变异至关重要。易患MH的患者应避免引发剂，和全静脉麻醉（TIVA）是首选。雷马唑仑对疑似MH患者是安全的。
方法：我们介绍了1例基因证实的MH无MH发展的患者中瑞马唑仑治疗的首例病例。一名72岁有MH家族史的男子接受了基于雷米咪唑的TIVA。在获得知情同意后，进行了肌肉活检和基因检测.术中和术后，患者无MH征象。表明RYR1通道释放钙的功能增强，基因检测揭示了RYR1的致病变体。
结论：基于雷马唑仑的TIVA在确认诊断为MH的患者中是安全的。
方法：我们介绍了1例基因证实的MH无MH发展的患者中瑞马唑仑治疗的首例病例。一名72岁有MH家族史的男子接受了基于雷米咪唑的TIVA。在获得知情同意后，进行了肌肉活检和基因检测.术中和术后，患者无MH征象。表明RYR1通道释放钙的功能增强，基因检测揭示了RYR1的致病变体。
结论：基于雷马唑仑的TIVA在确认诊断为MH的患者中是安全的。
