Ilham Benyamna, Houda El Fissi, Fadoua Bouzid, Abdelhamid El Mousadik, Najat Alif
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引用次数: 0
摘要
对维生素 K 拮抗剂完全耐药是一种罕见但严重的情况。它会使治疗管理复杂化，尤其是在无法使用直接口服抗凝剂的情况下。在对维生素 K 拮抗剂部分或完全耐药的患者中，发现了一些 VKORC1 基因的单突变。我们报告了两名 50 多岁女性的病例，她们出现了原因不明的外周静脉血栓。病因评估未发现任何异常。基因检测显示，两名患者均为 VKORC1 5417 GG 基因型。病例 1 的 VKORC1 3673 基因型为 GG，病例 2 为 GA。这两名患者对维生素 K 拮抗剂完全耐药，需要改变治疗方法，但结果良好。我们的目标是在文献综述的指导下提供最佳治疗。
VKORC1 polymorphisms and complete resistance to vitamin K antagonists: About two cases.
Complete resistance to vitamin K antagonists is a rare but serious condition. It can complicate therapeutic management, especially when direct oral anticoagulants cannot be used. Some single mutations in the VKORC1 gene have been identified in patients partially or completely resistant to vitamin K antagonists. We report the cases of two women in their fifties who presented an unexplained peripheral venous thrombosis. The aetiological assessment did not show any abnormalities. Genetic testing showed that both patients had the VKORC1 5417 GG genotype. The VKORC1 3673 genotype was GG in case 1 and GA in case 2. The two patients showed complete resistance to vitamin K antagonists which required a change in treatment with favourable outcomes. Our goal is to offer optimal care guided by a literature review.
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