Vicente V, Maia R, Alberca I, Tamagnini G P, Lopez Borrasca A
Thromb Haemost. 1984 Jul 29;51(3):343-6.
A 15-month-old girl from Coimbra (Portugal) had a history of numerous hemorrhagic episodes with multiple bruises, hematomas but not hemarthroses. On serial testing she showed deficiency of factors II, VII, IX, X and protein C. Malabsorption-induced vitamin K deficiency, liver disease or ingestion of a coumarin compound were excluded. An absence of detectable abnormalities was found among her relatives. Consanguinity was not present. The immunologic assay, immunoelectrophoresis or antibody neutralization, revealed much higher levels of these factors than the clotting assay. The non-physiological activator (Echis carinatus venom) produced higher levels of prothrombin activation than those detected by physiological activation. Two-dimensional immunoelectrophoresis of the patient's plasma in calcium showed that prothrombin had the same mobility as acarboxyprothrombin. No significant response to large doses of intravenous vitamin K3 (6 mg) was observed. Transfusion of 120 ml of frozen fresh plasma led to an immediate increase in the procoagulant activities of vitamin K dependent protein, similar to that found after perfusion of plasma plus vitamin K3. The results obtained from this patient suggest a defect in the gammacarboxylation mechanism inside the hepatocyte.
一名来自科英布拉（葡萄牙）的15个月大女孩有多次出血发作史，身上有多处瘀伤、血肿，但无关节积血。在系列检测中，她显示出凝血因子II、VII、IX、X以及蛋白C缺乏。排除了吸收不良引起的维生素K缺乏、肝脏疾病或香豆素化合物摄入。在她的亲属中未发现可检测到的异常。不存在近亲结婚情况。免疫测定、免疫电泳或抗体中和显示，这些因子的水平在免疫测定中比凝血测定中高得多。非生理性激活剂（锯鳞蝰蛇毒）产生的凝血酶原激活水平高于生理性激活所检测到的水平。患者血浆在钙存在下的二维免疫电泳显示，凝血酶原与无羧基凝血酶原具有相同的迁移率。未观察到对大剂量静脉注射维生素K3（6毫克）有明显反应。输注120毫升冷冻新鲜血浆导致维生素K依赖蛋白的促凝血活性立即增加，类似于血浆加维生素K3灌注后所发现的情况。从该患者获得的结果提示肝细胞内γ羧化机制存在缺陷。
