Porter Alan M W
Redcrest, Heath Rise, Camberley, Surrey, GU15 2ER, United Kingdom.
Mil Med. 2003 Jan;168(1):76-81.
The implications of the collapse of a soldier early in an exercise from exertional heat illness (EHI) are considered. Such soldiers may be at risk from a genetic predisposition. Malignant hyperthermia (MH) and isolated and improbable cases of EHI may be just two different expressions of the same mutated gene sequence. The genetics of MH are complex and present knowledge is incomplete. The use of the in vitro contraction test (IVCT) on cases of EHI, in addition to its proven role in MH, would be helpful in examining the relationship between MH and EHI. It has been shown that some soldiers collapsing with EHI may have subsequent positive IVCTs. The test, however, sometimes produces false positives and, in addition, a positive result could be a consequence of a heat insult rather than an antecedent. Further studies to establish the incidence of positive IVCTs in relatives of EHI probands, and thus test for heritability, are required. There is, at the moment, only one example of proven MH and proven EHI occurring in the same individual. DNA from a 12-year-old boy who suffered MH and later died from the EHI and from his relatives showed relevant mutations as did the DNA of two of three soldiers who survived EHI. Hajj pilgrims, who collapse with heat illness, do not show such mutations, but the etiology is different. The sedentary pilgrims succumbed to a very high external ambient temperature, the active soldiers to a huge output of internal metabolic heat. Only eventual advances in defining the genetics of MH and EHI will resolve the present confusion of the relationship between the two conditions. Meanwhile, there is a need to bypass considerations of the etiology of EHI and to identify the vulnerable and handicapped soldier by exposure after an interval of time to one or more exercise tolerance tests.
本文探讨了士兵在演习早期因运动性热疾病(EHI)而虚脱的潜在影响。这类士兵可能因遗传易感性而面临风险。恶性高热(MH)以及孤立且罕见的EHI病例可能只是同一突变基因序列的两种不同表现形式。MH的遗传学较为复杂,目前的认知尚不完整。除了已证实的在MH诊断中的作用外,对EHI病例进行体外收缩试验(IVCT),将有助于研究MH与EHI之间的关系。研究表明,一些因EHI而虚脱的士兵随后IVCT检测可能呈阳性。然而,该检测有时会出现假阳性结果,此外,阳性结果可能是热损伤的后果而非先前存在的基因问题。需要进一步研究以确定EHI先证者亲属中IVCT阳性的发生率,从而进行遗传性检测。目前,仅有一例已证实的MH和EHI同时出现在同一个体中的案例。一名12岁男孩曾患MH,后来死于EHI,其DNA以及他亲属的DNA显示出相关突变,三名从EHI中幸存的士兵中的两名也是如此。在热疾病中虚脱的朝觐者并未显示出此类突变,但其病因不同。久坐不动的朝觐者是因外界环境温度过高而发病,而活跃的士兵则是由于体内代谢产热过多。只有在明确MH和EHI遗传学方面取得最终进展,才能解决目前这两种病症之间关系的混乱状况。与此同时,有必要绕过对EHI病因的考量,通过在一段时间后让士兵接受一次或多次运动耐力测试来识别易患和有障碍的士兵。