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一个患有遗传性出血性毛细血管扩张症的家族中的肺血管发育异常和血管性血友病。病例报告。

Lung-angiodysplasia and von Willebrand's disease in a family with Rendu-Osler disease. A case report.

作者信息

Girola S S, Cusa C, Di Giulio G, Marti A, Mazzone A

机构信息

Dipartimento di Medicina Interna, Università IRCCS Policlinico San Matteo, Pavia.

出版信息

Recenti Prog Med. 1996 Dec;87(12):589-91.

PMID:9066252
Abstract

A young woman suffering from sideropenic anemia, bleeding disorders related to von Willebrand's disease and pulmonary vascular telangiectasias presented at our observation. Laboratory findings, genetic and hemostatic studies revealed platelet aggregation defect while in her father and grandfather lung angiodysplastic lesions without platelet aggregation defect. The association between bleeding disorders and pulmonary angiodysplasia has rarely presented in literature and deficiency of von Willebrand factor might increase the risk of bleeding in patients with coexisting angiodysplastic disease.

摘要

一名患有缺铁性贫血、与血管性血友病相关的出血性疾病以及肺血管扩张症的年轻女性前来接受我们的观察。实验室检查结果、基因和止血研究显示存在血小板聚集缺陷,而她的父亲和祖父有肺部血管发育异常病变但无血小板聚集缺陷。出血性疾病与肺血管发育异常之间的关联在文献中很少见,血管性血友病因子缺乏可能会增加合并血管发育异常疾病患者的出血风险。

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