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一例因前激肽释放酶缺乏导致严重复发性黏膜出血的病例。

A case of prekallikrein deficiency resulting in severe recurrent mucosal hemorrhage.

作者信息

Dasanu Constantin A, Alexandrescu Doru T

机构信息

Department of Hematology-Oncology, St. Francis Hospital and Medical Center, Hartford, CT 06105, USA.

出版信息

Am J Med Sci. 2009 Nov;338(5):429-30. doi: 10.1097/MAJ.0b013e3181b270bb.

Abstract

Although most cases of prekallikrein deficiency are asymptomatic, a few reports link severe prekallikrein deficiency with thrombotic phenomena and recurrent pregnancy loss. Here, we present a case of a Jamaican female patient with prekallikrein deficiency, associated with a severe bleeding diathesis. A low level of plasma prekallikrein activity, along with the presence of C529Y mutation, confirmed the diagnosis in our patient. Some animals with prekallikrein deficiency were shown to have moderate bleeding tendencies. Furthermore, the first patient with prekallikrein deficiency from the African continent was a young child who presented with severe, hemophilia-like bleeding, featuring recurrent hemarthrosis and subcutaneous hematomas. We find it intriguing that our patient is of African heritage and presented with a moderate nasal bleeding tendency in her youth, followed by severe recurrent mucosal bleeding later in life.

摘要

虽然大多数前激肽释放酶缺乏症病例无症状,但有少数报告将严重的前激肽释放酶缺乏与血栓形成现象和复发性流产联系起来。在此,我们报告一例牙买加女性前激肽释放酶缺乏症患者,伴有严重的出血素质。血浆前激肽释放酶活性水平低,以及存在C529Y突变,证实了我们患者的诊断。一些前激肽释放酶缺乏的动物表现出中度出血倾向。此外,非洲大陆首例前激肽释放酶缺乏症患者是一名幼儿,表现为严重的、类似血友病的出血,特征为反复关节积血和皮下血肿。我们发现有趣的是,我们的患者具有非洲血统,年轻时有中度鼻出血倾向,后来在生命后期出现严重的复发性黏膜出血。

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