血管性血友病 2B 型，伴有 VWF 基因的新突变。
Von Willebrand disease type 2B with a novel mutation in the VWF gene.
机构信息
From the Department of Pathology, Faculty of Medicine, Jazan University, Prince Muhammed Bin Naser Hospital, Jazan, Saudi Arabia.
From the Department of Hematology, Regional and University Hospital Centre Lille, Lille, Hauts-de-France.
出版信息
Ann Saudi Med. 2021 Jan-Feb;41(1):59-61. doi: 10.5144/0256-4947.2021.59. Epub 2021 Feb 4.
Abstract
We report a 38-year-old woman who presented with a subdural hematoma after minor facial trauma in a stressful situation. The laboratory data showed a subnormal platelet count (166×10/L), VWF:RCo activity was 45% and VWF:Ag was 53% with a VWF:RCo/VWF Ag ratio of 0.79. Hemostasis results and gene analysis revealed von Willebrand disease (VWD) type 2B with normal multimers and a novel mutation c.4136 G>T (R1379L), which appears to be a novel mutation of VWD type 2B that is mainly diagnosed with hypersensitivity to ristocetin and an hyperfixation of platelet Willebrand to a recombinant Gp1b. SIMILAR CASES PUBLISHED: None.
摘要
我们报告了一例 38 岁女性，在应激状态下发生轻微面部创伤后出现硬膜下血肿。实验室数据显示血小板计数轻度降低（166×10/L），VWF:RCo 活性为 45%，VWF:Ag 为 53%，VWF:RCo/VWF Ag 比值为 0.79。止血结果和基因分析显示 2B 型血管性血友病（VWD），多聚体正常，存在一种新的突变 c.4136 G>T（R1379L），这似乎是一种新的 2B 型 VWD 突变，主要通过对瑞斯托霉素的超敏反应和血小板血管性血友病因子与重组 Gp1b 的异常固定来诊断。
相似病例报道
无。
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