Anesthetic experience for patients with malignant hyperthermia susceptibility determined by molecular genetic test: A report of 2 cases.
10.4097/kjae.2009.57.3.387
- Author:
Jeong Woo LEE
1
;
Ji Sun YI
;
Jun Rye LEE
;
Dong Chan KIM
Author Information
1. Department of Anesthesiology and Pain Medicine, Chonbuk National University Medical School, Jeonju, Korea. dckim@chonbuk.ac.kr
- Publication Type:In Vitro ; Case Report
- Keywords:
Genetic test;
Malignant hyperthermia;
Ryanodine receptor;
Susceptibility
- MeSH:
Anesthesia;
Anesthetics, Inhalation;
Biopsy;
Contracture;
Genetic Testing;
Humans;
Korea;
Malignant Hyperthermia;
Molecular Biology;
Muscle, Skeletal;
Neuromuscular Depolarizing Agents;
Ryanodine Receptor Calcium Release Channel
- From:Korean Journal of Anesthesiology
2009;57(3):387-391
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disorder manifested as a life threatening hypermetabolic crisis in susceptible individuals following exposure to inhalation anesthetics and to depolarizing muscle relaxants. The preoperative diagnosis of MH susceptibility is difficult. The gold standard for determination of MH susceptibility is the in vitro contracture test. However, it is invasive, requiring skeletal muscle biopsy and is not widely available. Recent advances in genetic testing for mutations that result in MH during anesthesia have helped some genetic test have limitations in clinical application due to the diversity of mutations. In Korea, we found the RYR1 genetic mutation by molecular genetic testing for MH susceptibility in a family for which MH had occurred. Based on the results of genetic testing, we could known MH susceptibility of 2 patients. We believe that the genetic testing for MH can be developed and used with some limitations in clinical settings in Korea.
