恶性高热易感性的分子遗传学检测指南。

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

作者信息

Urwyler A, Deufel T, McCarthy T, West S

机构信息

Department of Anaesthesia and Research, Kantonsspital, University of Basel, Switzerland.

出版信息

Br J Anaesth. 2001 Feb;86(2):283-7. doi: 10.1093/bja/86.2.283.

DOI:10.1093/bja/86.2.283

PMID:11573677

Abstract

Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disease triggered by several anaesthetic agents. The in vitro muscle contracture test (IVCT) is the standard test to establish an individual's risk of susceptibility to MH. Clinical practitioners and geneticists of the European MH Group have agreed on the present guidelines for the detection of MH susceptibility using molecular genetic techniques and/or IVCT to predict the risk of MH.

摘要

恶性高热（MH）是一种由多种麻醉剂引发的潜在致命性药物遗传疾病。体外肌肉挛缩试验（IVCT）是确定个体对MH易感性风险的标准检测方法。欧洲MH小组的临床医生和遗传学家已就目前使用分子遗传技术和/或IVCT检测MH易感性以预测MH风险的指南达成一致。