咖啡因-氟烷骨骼肌收缩试验用于恶性高热的明确诊断

目的应用咖啡因-氟烷骨骼肌收缩试验(CHCT)明确恶性高热(MH)的诊断。方法对1例行胃癌根治术、在常规静脉吸入复合麻醉过程中出现MH临床表现的患者立即停止吸入异氟醚、停止手术,采取物理降温等紧急抢救措施;同时检测血清肌酸激酶(CK)、血清和尿肌红蛋白,取腹直肌进行CHCT。通过DNA测序对患者蓝尼定受体-1(RYR1)基因外显子2~18、39~46及90~104进行突变筛查。结果患者血清、尿肌红蛋白及血清CK术后持续升高,超过正常值30倍以上,结合其他临床表现诊断该患者为MH发作。尽管氟烷试验阴性,但是咖啡因试验阳性,根据CHCT诊断标准,确诊该患者为MH患者。患者的RYR1基因第6724位碱基C突变为T(c·6724C>T),导致其编码的第2206位氨基酸由苏氨酸变为甲硫氨酸(p·T2206M)。结论CHCT可用于MH的明确诊断。

Application of caffeine-halothane contracture test in the diagnosis of malignant hyperthermia

Objective To explore the application of caffeine-halothane contracture test (CHCT) in the confirmation of malignant hyperthermia (MH). Methods One patient who underwent radical gastrectomy presented with clinical manifestations of MH during routine intravenous-inhalation anesthesia process. Isoflurane inhalation and the operation were ceased immediately and emergency management approaches such as physical cooling therapy were taken. Meanwhile, the levels of serum creatine kinase (CK), serum myoglobin, and urinary myoglobin were examined and rectus abdominis was taken and then CHCT was performed to confirm the clinical diagnosis. Total genome was extracted from the patient and then exons 2-18, 39 -46, and 90-104 of ryanodine receptor 1 (RYR1) gene were screened to detect mutations using DNA sequencing technique. Results The patient was diagnosed as MH episode by clinical characteristics and postoperatively continuous elevation of the levels of CK, serum myoglobin, and urinary myoglobin (30 times higher than normal level). Despite halothane test was negative, the diagnosis of MH was verified by the positive result of caffeine test. DNA sequencing of RYR1 gene of the patient revealed c.6724C>T (p.T 2206M). Conclusion CHCT can be used to confirm the diagnosis of MH.