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遗传性血管异常:对其发病机制的新见解。

Hereditary vascular anomalies: new insights into their pathogenesis.

作者信息

Tille J-C, Pepper M S

机构信息

Department of Clinical Pathology, University Medical Center, Geneva, Switzerland.

出版信息

Arterioscler Thromb Vasc Biol. 2004 Sep;24(9):1578-90. doi: 10.1161/01.ATV.0000137390.56554.df. Epub 2004 Jul 1.

Abstract

Increased understanding of the mechanisms of angiogenesis and lymphangiogenesis has provided a glimpse at some of the molecules involved in the pathophysiology of hemangiomas and vascular malformations. This review focuses on recent advances in our understanding of the mechanisms of angiogenesis/lymphangiogenesis and the differentiation of arterial, venous, and lymphatic vessels. We integrate this knowledge with new data obtained from genetic studies in humans, which have revealed a number of heretofore-unsuspected candidates involved in the development of familial vascular anomalies. We present a common infantile vascular tumor, hemangioma, and then focus on hereditary familial vascular and lymphatic malformations. We also summarize transgenic mouse models for some of these malformations. It seems reasonable to believe that novel therapeutic strategies will soon emerge for the treatment of hemangiomas and vascular malformations.

摘要

对血管生成和淋巴管生成机制的深入了解,使我们得以窥见一些参与血管瘤和血管畸形病理生理学的分子。本综述聚焦于我们对血管生成/淋巴管生成机制以及动脉、静脉和淋巴管分化的最新认识进展。我们将这些知识与人类遗传学研究获得的新数据相结合,这些研究揭示了一些此前未被怀疑的参与家族性血管异常发育的候选基因。我们先介绍一种常见的婴儿血管肿瘤——血管瘤,然后重点关注遗传性家族性血管和淋巴管畸形。我们还总结了其中一些畸形的转基因小鼠模型。相信不久将会出现治疗血管瘤和血管畸形的新治疗策略。

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