Brandom Barbara W, Muldoon Sheila M
Department of Anesthesiology, North American Malignant Hyperthermia Registry of the Malignant Hyperthermia Association of the United States, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Paediatr Anaesth. 2013 Sep;23(9):851-4. doi: 10.1111/pan.12224. Epub 2013 Jul 15.
Children, later found to have ryanodine receptor type one variants (RYR1), died without exposure to inhalation anesthetics. Family members with the same RYR1 variants had contracture tests consistent with susceptibility to malignant hyperthermia or in vitro testing showed increased sensitivity to RYR1 agonist.
后来发现患有1型兰尼碱受体(RYR1)变异的儿童,在未接触吸入性麻醉剂的情况下死亡。具有相同RYR1变异的家庭成员进行挛缩试验时表现出对恶性高热的易感性,或体外试验显示对RYR1激动剂的敏感性增加。