肌肉挛缩试验阳性可诊断为易患 MH。
MH 易感性患者如果暴露于触发因素可能发展为 MH。
在对 MH 有易感性的患者中约 50%-70% 存在 RYR1 突变。[20]Kraeva N, Riazi S, Loke J, et al. Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Can J Anaesth. 2011;58:504-513.http://link.springer.com/article/10.1007/s12630-011-9494-6/fulltext.htmlhttp://www.ncbi.nlm.nih.gov/pubmed/21455645?tool=bestpractice.com[23]Sambuughin N, Holley H, Muldoon S, et al. Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the North American population. Anesthesiology. 2005;102:515-521.http://www.ncbi.nlm.nih.gov/pubmed/15731587?tool=bestpractice.com[24]Levano S, Vukcevic M, Singer M, et al. Increasing the number of diagnostic mutations in malignant hyperthermia. Human Mutat. 2009;30:590-598.http://www.ncbi.nlm.nih.gov/pubmed/19191329?tool=bestpractice.com[6]Rosenberg H, Pollock N, Schiemann A, et al. Malignant hyperthermia: a review. Orphanet J Rare Dis. 2015;10:93.http://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0310-1http://www.ncbi.nlm.nih.gov/pubmed/26238698?tool=bestpractice.com但结果可能因特定人群和基因检测的细节而有所差异。[30]Klingler W, Heiderich S, Girard T, et al. Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet J Rare Dis. 2014;9:8.http://www.ojrd.com/content/9/1/8http://www.ncbi.nlm.nih.gov/pubmed/24433488?tool=bestpractice.com[46]Rosenberg H. Mining for mutations in malignant hyperthermia. Anesth Analg. 2011;113:975-976.http://journals.lww.com/anesthesia-analgesia/Fulltext/2011/11000/Mining_for_Mutations_in_Malignant_Hyperthermia.5.aspxhttp://www.ncbi.nlm.nih.gov/pubmed/22021794?tool=bestpractice.com
