European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility

被引:156
作者
Hopkins, P. M. [1 ]
Rueffert, H. [2 ,3 ]
Snoeck, M. M. [4 ]
Girard, T. [5 ]
Glahn, K. P. E. [6 ]
Ellis, F. R. [1 ]
Mueller, C. R. [7 ]
Urwyler, A. [5 ]
机构
[1] St James Univ Hosp, Malignant Hyperthermia Unit, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England
[2] Univ Hosp Leipzig, Dept Anaesthesiol & Intens Care Med, Leipzig, Germany
[3] Helios Klin Schkeuditz, Klin Anasthesie, Intens Med, Schmerztherapie, Schkeuditz, Germany
[4] Canisius Wilhelmina Ziekenhuis, Dept Anaesthesiol, Nijmegen, Netherlands
[5] Univ Basel, Dept Anaesthesia & Res, Basel, Switzerland
[6] Herlev Univ Hosp, Dept Anaesthesia, Danish Malignant Hyperthermia Ctr, Copenhagen, Denmark
[7] Univ Wurzburg, Dept Human Genet, D-97070 Wurzburg, Germany
关键词
CACNA1S; excitation-contraction coupling; malignant hyperthermia; malignant hyperthermia susceptibility; diagnosis; RYR1; skeletal muscle; VITRO CONTRACTURE-TEST; RYANODINE RECEPTOR MUTATION; DEPENDENT CALCIUM-CHANNEL; CENTRAL CORE DISEASE; CA2+ RELEASE; FUNCTIONAL-CHARACTERIZATION; HEAT-STROKE; RYR1; GENE; LOCALIZATION;
D O I
10.1093/bja/aev225
中图分类号
R614 [麻醉学];
学科分类号
100217 ;
摘要
It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for the laboratory diagnosis of malignant hyperthermia susceptibility from the European Malignant Hyperthermia Group. This has subsequently been used in more than 10 000 individuals worldwide to inform use of anaesthetic drugs in these patients with increased risk of developing malignant hyperthermia during general anaesthesia, representing an early and successful example of stratified medicine. In 2001, our group also published a guideline for the use of DNA-based screening of malignant hyperthermia susceptibility. We now present an updated and complete guideline for the diagnostic pathway for patients potentially at increased risk of developing malignant hyperthermia. We introduce the new guideline with a narrative commentary that describes its development, the changes to previously published protocols and guidelines, and new sections, including recommendations for patient referral criteria and clinical interpretation of laboratory findings.
引用
收藏
页码:531 / 539
页数:9
相关论文
共 54 条
[1]  
Adeokun AM, 1997, AM J HUM GENET, V60, P833
[2]  
[Anonymous], 2013, Practice guidelines for the evaluation of pathogenicity and the reporting of sequence variants in clinical molecular genetics
[3]   A noninvasive investigation of muscle energetics supports similarities between exertional heat stroke and malignant hyperthermia [J].
Bendahan, D ;
Kozak-Ribbens, G ;
Confort-Gouny, S ;
Ghattas, B ;
Figarella-Branger, D ;
Aubert, M ;
Cozzone, PJ .
ANESTHESIA AND ANALGESIA, 2001, 93 (03) :683-689
[4]   Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes [J].
Brinkmeier, H ;
Krämer, J ;
Krämer, R ;
Iaizzo, PA ;
Baur, C ;
Lehmann-Horn, F ;
Rüdel, R .
BRITISH JOURNAL OF ANAESTHESIA, 1999, 83 (06) :855-861
[5]   MALIGNANT HYPERTHERMIA - RELATIONSHIP TO OTHER DISEASES [J].
BROWNELL, AKW .
BRITISH JOURNAL OF ANAESTHESIA, 1988, 60 (03) :303-308
[6]   Genetic variation in RYR1 and malignant hyperthermia phenotypes [J].
Carpenter, D. ;
Robinson, R. L. ;
Quinnell, R. J. ;
Ringrose, C. ;
Hogg, M. ;
Casson, F. ;
Booms, P. ;
Iles, D. E. ;
Halsall, P. J. ;
Steele, D. S. ;
Shaw, M. -A. ;
Hopkins, P. M. .
BRITISH JOURNAL OF ANAESTHESIA, 2009, 103 (04) :538-548
[7]  
DENBOROUGH MA, 1982, LANCET, V2, P1068
[8]  
DEUFEL T, 1995, AM J HUM GENET, V56, P1334
[9]   Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis [J].
Dlamini, N. ;
Voermans, N. C. ;
Lillis, S. ;
Stewart, K. ;
Kamsteeg, E. -J. ;
Drost, G. ;
Quinlivan, R. ;
Snoeck, M. ;
Norwood, F. ;
Radunbvic, A. ;
Straub, V. ;
Roberts, M. ;
Vrancken, A. F. J. E. ;
van der Pol, W. L. ;
de Coo, R. I. F. M. ;
Manzur, A. Y. ;
Yau, S. ;
Abbs, S. ;
King, A. ;
Lammens, M. ;
Hopkins, P. M. ;
Mohammed, S. ;
Treves, S. ;
Muntoni, F. ;
Wraige, E. ;
Davis, M. R. ;
van Engelen, B. ;
Jungbluth, H. .
NEUROMUSCULAR DISORDERS, 2013, 23 (07) :540-548
[10]  
ELLIS FR, 1984, BRIT J ANAESTH, V56, P1267