Isaacs H, Barlow M B
Br Med J. 1970 Jan 31;1(5691):275-7. doi: 10.1136/bmj.1.5691.275.
The members of a family in whom three malignant hyperpyrexial deaths occurred during anaesthesia were studied by means of serum creatine phosphokinase estimations. Abnormally high levels were found in many asymptomatic relatives. It is suggested that the abnormal levels reflect a subclinical myopathy of autosomal dominant inheritance which possesses a potentially lethal propensity resulting in a malignant hyperpyrexia when challenged with various anaesthetic agents. Possibly sudden unexplained deaths under varying circumstances are a further expression of this underlying abnormality.A possible clue to the anticipation of future cases of malignant hyperpyrexia has been found, and it is suggested that relatives of previous cases be investigated.
对一个在麻醉期间发生三例恶性高热死亡病例的家族成员进行了血清肌酸磷酸激酶测定研究。在许多无症状的亲属中发现了异常高的水平。有人提出,这些异常水平反映了一种常染色体显性遗传的亚临床肌病,这种肌病具有潜在的致死倾向,在接触各种麻醉剂时会导致恶性高热。在不同情况下可能出现的不明原因猝死可能是这种潜在异常的进一步表现。已经找到了一个预测未来恶性高热病例的可能线索,建议对既往病例的亲属进行调查。