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患者ryanodine 受体 1 基因出现新型变异,致欣快剂诱发横纹肌溶解和神经阻滞剂恶性综合征

Ecstacy-induced delayed rhabdomyolysis and neuroleptic malignant syndrome in a patient with a novel variant in the ryanodine receptor type 1 gene.

机构信息

Anaesthesia Department, Sir Charles Gairdner Hospital, Perth, Western Australia.

出版信息

Anaesthesia. 2012 Sep;67(9):1021-4. doi: 10.1111/j.1365-2044.2012.07226.x. Epub 2012 Jun 27.

Abstract

We present the case of a 20-year-old woman who developed rhabdomyolysis, disseminated intravascular coagulopathy and multi-organ failure induced by ecstasy. Following initial improvement, she developed delayed rhabdomyolysis then haloperidol-induced neuroleptic malignant syndrome, which was treated with a total of 50 mg.kg(-1) dantrolene. Subsequent genetic testing revealed a novel potentially pathogenic variant in the ryanodine receptor type 1 gene. However, caffeine-halothane contracture testing of the patient's mother who carried the same gene variant was negative for malignant hyperthermia.

摘要

我们报告了一例 20 岁女性因使用摇头丸而引发横纹肌溶解症、弥散性血管内凝血和多器官功能衰竭。在初始改善后,她发展为迟发性横纹肌溶解症,然后是氟哌啶醇诱导的恶性神经阻滞剂综合征,共使用了 50mg/kg 的丹曲林钠进行治疗。随后的基因检测显示,Ryanodine 受体 1 基因中存在一种新的潜在致病性变异。然而,携带相同基因突变的患者母亲的咖啡因-氟烷收缩试验结果为恶性高热阴性。

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