Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature
Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature
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DOI：
10.1016/j.legalmed.2008.12.004
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发表时间：
2009-05-01
期刊：
影响因子：
1.5
通讯作者：
Suzuki, Koichi
中科院分区：
文献类型：
--
作者：
Nishio, Hajime;Sato, Takako;Suzuki, Koichi
恶性体温过高(MH)是一种易感个体骨骼肌的遗传性疾病，由暴露于麻醉剂引发，可导致死亡。兰尼定受体1型基因(RYR1)突变与MH易感性有关。在炎热条件下的剧烈运动或婴儿过热的情况下，易感人群也会引发MH。在这里，我们报告一例2岁9个月大的儿童，他被留在一辆车里，暴露在高温下。经尸检，该儿童疑似死于中暑。尸检突变分析显示，这名儿童具有两种不同的RYR1突变。由于每个突变都是在一个单独的MH易感患者中发现的，所以在这名RYR1突变的儿童中可能发生了对环境高温反应过度的MH易感性。这些发现表明，一名MH易感病例可能在尸检时被推定为中暑死亡。(C)2008爱思唯尔爱尔兰有限公司。保留所有权利。
Malignant hyperthermia (MH) is a genetic disorder of skeletal Muscle in susceptible individuals that is triggered by exposure to anesthetic agents, and can Cause death. Mutations in the ryanodine receptor type 1 gene (RYR1) are associated with MH-susceptibility. MH is also triggered in Susceptible individuals by severe exercise in hot conditions or by overheating in infants. Here, we report a case of a child, 2 years, 9 months of age, who was left in a car and exposed to a high environmental temperature. The child was Suspected to have died of heat stroke by autopsy examinations. Postmortem mutation analysis revealed that the child possessed two distinct RYR1 mutations. Since each mutation had previously been identified in a separate MH-susceptible patient, MH-susceptibility with over-response to the environmental high temperature might have occurred in this child with RYR1 mutations. These findings suggest that a MH-susceptible case may have died with a presumed diagnosis of heat stroke at autopsy. (C) 2008 Elsevier Ireland Ltd. All rights reserved.