원저(原著) : 활성화 C 단백 내성과 혈액응고 V 인자 돌연변이 = Activated Protein C Resistance and Mutation in Coagulation Factor V

다국어 초록 (Multilingual Abstract)

Only 5~10 % of the inherited thrombophilia is thought to be associated with deficiencies of protein C, protein S or antithrombin III. Approximately half of the inherited thrombophilia has been found to have resistance to-activated protein C(APC). The APC resistance phenotype is associated with a single point mutation in the factor V gene that changes Arginine(506) in the APC cleavage site to a Glutamin. We performed quantitative test for protein C, protein S and free protein S in 42 thrombophilic patients. Then we did functional clotting time test for APC resistance and polymerase chain reaction for the detection of factor V gene mutation assay. In 42 patients, 29 patients had protein C or protein S deficiencies. Most of the patients with protein C or protein S deficiencies had thrombotic episodes as an initial presentation(37 %). However there were two thrombosis patients in normal distribution of protein C and protein S. Three patients showed significant resistance to APC. These patients also had mild protein C or protein S deficiencies. The factor V mutation didn`t find in 42 patients of this study. Further study for dectection of factor VIII mutation or other type of factor V mutation is necessary to find out more cases of inherited thrombophilia.