Analysis Of Clinical And Genetic For Malignant Hyperthermia

Part 1 Analysis of Clinical Features for Malignant HyperthermiaObjective:Through the analysis of clinical data of malignant hyperthermia patients in Hunan, to investigate the precipitating factors,clinical manifestations and characteristic. Contrast with the clinical research results of domestic and foreign, in order to compile datas for clinical research of malignant hyperthermia in Chinese race.Methods:Summarized four cases of MH. The characteristics of the four cases, including drugs and methods of anesthesia, clinical manifestations, and results of lab examination, emergency treatment methods and prognosis were reported.Results:MH is highly occurs in young people, more frequently in males than females. It can be triggered by Ketamine. Clinical manifestations and characteristic include temperature increase,rapid heartbeat and breath,muscle rigidity and so on. The features change in blood test. The essential principle in the treatment are cooling,sedative and spasmolysis.Conclusions:Clinical description of MH in Hunan is conformity with the dates of abroad;Ketamine is the major trigger drug. The blood test can be the assistant diagnostic criteria. Early diagnosis can be helpful in therapy.Part 2 Analysis of Gene Mutation of RYR1 for Malignant HyperthermiaObjective:To determine the distribution of ryanodine receptor 1 (RYR1) gene mutations in MH and fever patients as compared. Find out the differences of mutation sites between Chinese races and the foreign. Supply the basic information to establish the genetic diagnosis of MH.Methods:One MH patient (A) was included in this study. Besides, one fever patient after anesthesia surgery (B)and one fever patient because Infection(C)were included as compared. Genomic DNA were extracted from blood lymphocytes. All the RYR1 coding regions and flanking intron-exon boundaries were amplified and directly sequenced.Results:DNA sequencing of PCR-amplified fragments of patient A revealed c.1077T>C,c.1668G>A,c.2286C>T,c.2943G>A,C.7281C>T. There is no change of amino acid. All of the mutations are nonsense mutation. DNA sequencing of PCR-amplified fragments of patient B and C did not reveal mutation in RYR1 gene.Conclusions:Five new site of mutation in RYR1 gene were found. All of the mutations are nonsense mutation. These can induce the structure of protein change which needs further studies. Genetic diagnosis can be the assistance of MH diagnosis.