[奥斯勒-伦杜氏病：遗传性疾病中家族聚集性的一个例子]

[Osler--Rendu Disease: an example of a family clustering in a genetic disorder].

作者信息

Mitu F, Lovin Sânziana, Rusu Cristina, Mitu Magda, Georgescu T, Pandele G I, Covic M

机构信息

Facultatea de Medicină, Clinica a VI-a Medicală, Spitalul Clinic de Recuperare, Universitatea de Medicină şi Farmacie Gr.T. Popa Iaşi.

出版信息

Rev Med Chir Soc Med Nat Iasi. 2002 Oct-Dec;106(4):820-4.

PMID:14974237

Abstract

The case of a 75 years old woman with hereditary hemorrhagic telangiectasia (HHT) is presented. This condition is an autosomal dominant mucocutaneous and visceral fibrovascular dysplasia in which telangiectasia, arteriovenous malformations and aneurysms may be widely distributed throughout the cardiovascular system. It is usually recognized as a "triad" of telangiectasia, recurrent epistaxis and a family history of the disorder.

摘要

本文介绍了一位75岁患有遗传性出血性毛细血管扩张症（HHT）的女性病例。这种疾病是一种常染色体显性遗传的黏膜皮肤和内脏纤维血管发育异常，其中毛细血管扩张、动静脉畸形和动脉瘤可能广泛分布于整个心血管系统。它通常被认为是由毛细血管扩张、反复鼻出血和该疾病的家族史组成的“三联征”。