Application of caffeine-halothane contracture test in the diagnosis of malignant hyperthermia / 中国医学科学院学报

ABSTRACT

<p><b>OBJECTIVE</b>To explore the application of caffeine-halothane contracture test (CHCT) in the confirmation of malignant hyperthermia (MH).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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 2 206M).</p><p><b>CONCLUSION</b>CHCT can be used to confirm the diagnosis of MH.</p>