Kazantseva A A, Lebedinskiĭ K M
Anesteziol Reanimatol. 2014 Jul-Aug;59(4):64-8. doi: 10.18821/0201-7563-2014-59-4-64-68.
Malignant hyperthermia is a well-known rare life-threatening autosomal-dominant pharmacogenetic disease, The arti- cle deals with a halothane-caffeine contracture test. The test is a model of muscle reaction to triggers in-vitro and it is the "golden standard" for malignant hyperthermia susceptibility (MHS) diagnosis. Genetic analysis is less invasive, but its sensitivity is significantly lower. The review discusses both the methods which are essential to be completely reproduced in Russia, and their role in modern approach to MHS diagnosis.
恶性高热是一种众所周知的罕见的、危及生命的常染色体显性遗传药理学疾病。本文论述了氟烷-咖啡因挛缩试验。该试验是肌肉对体外触发因素反应的模型,是恶性高热易感性(MHS)诊断的“金标准”。基因分析侵入性较小,但其灵敏度显著较低。本文综述了在俄罗斯必须完全重现的方法及其在现代MHS诊断方法中的作用。