新青年麻醉论坛

标题: What is Your MH IQ? 你的恶性高热(MH) 智商是多少？ [打印本页]

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作者: apsf    时间: 2015-7-14 19:20
标题: What is Your MH IQ? 你的恶性高热(MH) 智商是多少？
What is Your MH IQ?
你的恶性高热(MH) 智商是多少？

by Charles B, Watson, MD, FCCM, and Barbara W. Brandom, MD
http://www.apsf.org/newsletters/html/2015/June/01_MHIQ.htm

张晓燕医师 译(美国加州洛杉矶, email: [email protected])
胡宗元医师 审校、加表并编辑 (《北美醫訊》美国宾州费城)
曹锡清医师 审校 (美国华盛顿特区)
致谢彭勇刚医师(美国佛州盖恩斯维尔)、谷峰医师(美国麻州波士顿)协助
Anesthesia Patient Safety Foundation(麻醉患者安全基金会) 同意翻译发表


Question Your Understanding of MH:

The anesthesia community has the best understanding of Malignant Hyperthermia [MH] because it is a genetically determined illness that is most often recognized during or immediately after anesthesia with the potent inhalational agents and/or administration of succinylcholine.

Moreover, a specific antidote for the MH crisis has been available since the late 1970s, dantrolene sodium. Now dantrolene and other necessary elements needed for emergency treatment of an MH episode are immediately available to anesthesia staff at most hospital and outpatient anesthetizing areas where triggering agents are employed.

Death during an MH crisis has undoubtedly decreased since the entity was first identified in the middle of the last century because of anesthesia care givers’ increased awareness and ability to treat the crisis.


问自己：对恶性高热知多少？

普遍认为麻醉业内对恶性高热(MH)了解最多，因为它是一种在麻醉期间或麻醉后立即被麻醉医生识别的遗传疾病，它的发病是由于单独使用强效吸入全麻药物, 或同时并用肌松剂琥珀酰胆碱的结果。

此外，自20世纪70年代末, 对抗MH危象的特效解毒剂丹曲林钠已经用于临床。目前，在凡是可能使用诱发MH危象麻醉剂的大多数医院和门诊手术区域, 都备有丹曲林和相应抢救器材，以备麻醉人员应急使用。

自从上世纪中叶首次确诊MH危象以来, 由于麻醉人员对MH危象的认识和处理的能力不断提高, MH的死亡率无疑已经降低了。


Your MH “IQ”?  你的恶性高热“智商”？
Test yourself with the following statements. Are they true or false?
测试你对下面陈述的判断, 是对是错？


1.        MH is better understood now, after more than 40 years of anesthesia education, research, and clinical experience, so it is no longer lethal.

FALSE— There may be an improvement in our understanding of MH susceptibility and the MH crisis since it was first identified as a fatal perioperative event with high fever.1 Indeed, one review of MH in New Zealand reported no deaths from MH crisis from a series of more than 120 crises.2

Unfortunately there are still patients dying of MH every year. MH episodes, individuals with positive MH biopsies, and MH-like events have been reported to the North American MH Registry (NAMHR) since 1988.

While data resources in a registry do not provide an accurate event baseline and many events remain unreported, they do provide a profile of events that take place, and there is no evidence to suggest a decrease in MH-related death or complications.

The most recent review of MH Registry data shows an increased, rather than decreased, number of deaths reported.3

In addition, there has been skepticism that succinylcholine, alone, causes MH crisis in susceptible individuals.4,5 Older data from the MH registry and newer data from the Canadian MH experience in recent years clearly show that MH crisis can be induced by succinylcholine administration, alone.4,6-8 Succinylcholine induced muscle contracture of patients and swine shown susceptible to MH by halothane caffeine contracture testing have been demonstrated.9,10

While the actual magnitude of the risk associated with succinylcholine, alone, is unknown, it is evident that organizations where succinylcholine may be used with or without triggering inhalational agents should have both the MH antidote, dantrolene, and an approach for management of MH crisis.11


1. “经过40多年的麻醉教育，科研和临床经验，我们对MH有较好的理解, 所以它不再是致命的”。

错。自从MH危象首次被鉴定为致命性的围手术期高热事件以来, 我们对MH的易感病例和危机的认识有所提高。的确，在新西兰的一篇综述回顾了120个 MH病例，无一例死亡。

不幸的是每年仍有患者死于MH。自1988年以来,  MH发作事件、MH活检阳性患者和MH易感事件陆续报告至北美恶性高热登记中心 (NAMHR)。

然而, 在北美恶性高热登记中心提供的资料中, 我们还不能得到一份准确的疾病发生基线，而且许多病例未上报。 但根据目前资料所看到的轮廓，并没有证据表明MH相关的死亡和并发症有所减少。 MH的最新登记数据显示, MH死亡人数并未减少反而有所增加。
此外，对单用琥珀酰胆碱 (SUX) 导致MH易感病人引发恶性高热的说法, 一直有疑议。 由北美MH登记中心提供的旧资料, 及近几年的加拿大MH记录机构的较新数据清楚地表明，单用SUX 可以诱发MH危象。

实验也证实, 对MH易感病例的标本, SUX诱发的人和猪肌肉挛缩实验, 与氟烷咖啡因测试的结果有一致性 。

暂且不论SUX单独诱发MH风险的意义大小，显而易见的是，只要在有可能使用SUX的地方, 无论是否同时有麻醉吸入剂的合并应用, 都要必备MH拮抗剂丹曲林，以及用于MH暴发的全套管理的方法。




2.        Fever is a late finding in MH crisis. If we take measures to keep patients warm, temperature monitoring is unimportant.

FALSE—Fever was one of the 3 early signs of MH crisis reported in a majority of patients reported to the MH registry in recent reviews. Indeed it was the first sign of MH in approximately one-third and one of the 3 initial signs of MH crisis in approximately two-thirds of patients recently reported from the MH registry.

Temperature monitoring is important and review of data from the MH registry showed that survival after MH crisis was related to core temperature monitoring.

It is likely that, when temperature is not monitored and rising temperature is missed, recognition of MH crisis is delayed in a significant number of cases.3,12,13

Also, temperature and other metabolic monitors are important in the immediate postoperative period as well.14


2  MH危象中高热是迟发症状。若在术中给患者采取保暖措施，监测体温并不重要。

错
从最近北美恶性高热登记中心获取的资料显示, 发热是MH爆发的三项早期迹象之一 。   约三分之一的病例报道, MH的第一症状就是发热。 另三分之二病例则显示发热是MH的三项早期症状之一 。                  

体温监测是非常重要，北美恶性高热登记中心的回顾资料显示，是否有中心体温的测定事关MH病人的生存 。

显而易见, 众多病例中，因无体温监控, 体温升高被忽略，继而延误了MH暴发的诊断。
此外, 术后早期的体温和其他代谢指标的监测,也是非常重要 。




3.        MH is very rare—there is one causative genetic mutation associated with MH susceptibility.

FALSE—Depending on the population reviewed, MH crisis has been reported with an incidence ranging from 1:8,000 to 1:30,000 anesthetics. Quarterly reviews of calls to the MH Hotline [800-MH-HYPER] made when a caller suspects MH show that around 30% are MH crisis while most represent other acute processes.

Early work focused the problems associated with MH crisis on skeletal muscle abnormalities because of the marked increase in muscle tone seen in many MH events.15

In recent years there has been a dramatic growth in understanding the genetics underlying MH susceptibility.

Susceptible individuals have demonstrated one or more mutations in the calcium release channel [Ca2+] RYR1 gene16 and in genes for 2 other proteins that interact with RYR1.17,18

Criteria for establishing a causative genetic marker are quite rigorous. In the past linkage to MH susceptibility in one or more families, was demonstrated to loci on chromosomes 1, 3, 5, 7, 17 & 19, but the only genes shown to be associated with MH susceptibility are RYR1 on chromosome 19, CACNA1S on chromosome 1, and STAC3 on chromosome 12. Thus, clinical genetic testing of MH risk has moved beyond the Hot Spots in RYR1 to include ALL of RYR1 and 2 other genes, CACNA1S and STAC3.19,20

Of the >450 MH-associated mutations identified in RYR1, only fewer than 40 have been shown to be functionally causative as reported by the European MH group (www.emhg.org).

Interestingly, characterization of the genetics of families with MH susceptibility shows that more individuals in a family carry the genetic marker than have demonstrated MH crisis.

This suggests that a larger group of individuals is at risk for development of MH than the number reported to have had a crisis, whatever the actual incidence of MH crisis may be. About one in 2,000 people has a genetic trait that could support the development of an MH crisis when their muscle is stressed.

MH is neither very rare nor the result of a simple genetic defect. Genetic testing is valuable, as it is very specific, and can help identify many individuals susceptible to MH. However, the gold standard for diagnosing MH susceptibility remains in vitro testing of viable muscle, with the caffeine-halothane contracture test [CHCT], because genetic testing is only 30-50% sensitive at this time.

3. MH是非常罕见的 ---一个致病基因突变与MH易发有关。

错
根据人群回顾调查, MH危象发病率约为麻醉总病例数的八千分之一到三万分之一。回顾MH热线的每季度MH易感患者急性病症的报告, 约30％是MH危象, 而大多数是其他的急性病症。

MH热线为[美国境内 800-MH-HYPER，800-644-9737； 美国境外 1-315-464-7079]

MH病因的早期研究工作, 集中在骨骼肌的异常 。 主要原因是大多数恶性高热发作会引起骨骼肌张力的显着增加 。

建立一个致病基因标记的标准是非常严格的。以往与一个或多个家族相关的恶性高热易患病例的基因位点表现在1，3，5，7, 17和19号染色体上，但到目前为止仅能证实19号染色体的RYR1基因、1号染色体的钙离子通道ą亚单位CACNA1S基因及12号染色体的STAC3基因上发现了MH易感基因(其他染色体有待证明 - 译注)。因此，现在临床MH风险的基因检测,除以往的热点RYR1的外,还应包括CACNA1S和STAC3两个基因。

欧洲恶性高热组www.emhg.org数据表明，虽然在RYR1上发现了超过450种MH相关基因突变，仅不到40个突变具有引起MH的功能。有趣的是，家族易患恶性高热的遗传特征表明，在一个家族中携带MH遗传标记的人数远高于该家族中恶性高热实际发病人数。
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