Helf D, Schneiderbanger D, Markus C K, Johannsen S, Schuster F
Klinik und Poliklinik für Anästhesiologie, Zentrum für Operative Medizin, Universitätsklinikum Würzburg, Oberdürrbacher Str. 6, 97080, Würzburg, Deutschland.
Anaesthesist. 2018 Apr;67(4):275-279. doi: 10.1007/s00101-018-0419-4. Epub 2018 Feb 26.
In a 59-year-old woman with a perforating eyeball injury to the right eye, the emergency physician induced a preclinical general anesthesia with propofol, fentanyl and the depolarizing muscle relaxant succinylcholine. Anesthesia was maintained using propofol and remifentanil infusion throughout the preoperative period and the subsequent surgical procedure. Postoperatively, isolated rhabdomyolysis with an increase in serum creatine kinase to >20,000 U/l was observed. The diagnosis of malignant hyperthermia (MH) susceptibility could be confirmed in the patient 4 months after the acute event by the in vitro contracture test and detection of the MH causative mutation p.Val4849Ile in exon 101 of the ryanodine receptor gene. Due to the variable expression, for a long time MH often remained unrecognized. Warning symptoms, such as unspecific tachycardia or masseter spasm following succinylcholine injection, should alert emergency physicians to include MH susceptibility in the differential diagnostics. With an estimated genetic MH prevalence of 1:2000-3000, individuals with known or so far unrecognized MH disposition are likely to be among patients treated in the preclinical setting. If a person develops MH symptoms after exposure to triggering agents, immediate hospital admission is essential in order to initiate guideline-conform treatment without further delay because preclinically the life-saving causal measures are not possible due to the lack of supply of dantrolene.
在一名59岁右眼眼球穿孔伤的女性患者中,急诊医生使用丙泊酚、芬太尼和去极化肌松剂琥珀酰胆碱诱导临床前全身麻醉。在整个术前阶段及随后的手术过程中,使用丙泊酚和瑞芬太尼输注维持麻醉。术后,观察到孤立性横纹肌溶解,血清肌酸激酶升高至>20,000 U/l。在急性事件发生4个月后,通过体外挛缩试验和检测兰尼碱受体基因第101外显子中的恶性高热(MH)致病突变p.Val4849Ile,确诊该患者存在MH易感性。由于表达的变异性,MH长期以来常常未被识别。诸如非特异性心动过速或注射琥珀酰胆碱后咬肌痉挛等警示症状,应提醒急诊医生在鉴别诊断中考虑MH易感性。估计遗传型MH的患病率为1:2000 - 3000,在临床前环境中接受治疗的患者中可能存在已知或迄今未被识别的MH易感性个体。如果一个人在接触触发剂后出现MH症状,立即住院至关重要,以便立即开始符合指南的治疗,不能有进一步延迟,因为在临床前由于缺乏丹曲林供应,无法采取挽救生命的因果措施。