Govani Fatima S, Shovlin Claire L
NHLI Cardiovascular Sciences, Imperial College London, London, UK.
Eur J Hum Genet. 2009 Jul;17(7):860-71. doi: 10.1038/ejhg.2009.35. Epub 2009 Apr 1.
The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5-8000 people. Genes mutated in HHT (most commonly for endoglin or activin receptor-like kinase (ALK1)) encode proteins that modulate transforming growth factor (TGF)-beta superfamily signalling in vascular endothelial cells; mutations lead to the development of fragile telangiectatic vessels and arteriovenous malformations. In this article, we review the underlying molecular, cellular and circulatory pathobiology; explore HHT clinical and genetic diagnostic strategies; present detailed considerations regarding screening for asymptomatic visceral involvement; and provide overviews of management strategies.
常染色体显性遗传病遗传性出血性毛细血管扩张症（HHT）的发病率为1/5000 - 1/8000。HHT相关的突变基因（最常见的是内皮糖蛋白或激活素受体样激酶（ALK1））编码的蛋白质可调节血管内皮细胞中转化生长因子（TGF）-β超家族信号；这些突变会导致脆弱的毛细血管扩张性血管和动静脉畸形的形成。在本文中，我们综述了潜在的分子、细胞和循环病理生物学；探讨了HHT的临床和基因诊断策略；介绍了针对无症状内脏受累筛查的详细注意事项；并概述了管理策略。
