Hereditary haemorrhagic telangiectasia: a clinical and scientific review

被引：341

作者：

Govani, Fatima S. ^{[2
]}

Shovlin, Claire L. ^{[1
,2
]}

机构：

[1] Imperial Coll Healthcare NHS Trust, Hammersmith Hosp, Dept Resp Med, London W12 0NN, England

[2] Univ London Imperial Coll Sci Technol & Med, NHLI Cardiovasc Sci, London, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2009年 / 17卷 / 07期

关键词：

nosebleeds; anaemia; AVMs; stroke; endothelial; TGF-beta; PULMONARY ARTERIOVENOUS-MALFORMATIONS; ENDOTHELIAL-CELL PROLIFERATION; WEBER-RENDU-SYNDROME; CONTRAST ECHOCARDIOGRAPHY; JUVENILE POLYPOSIS; ARAB FAMILY; ENDOGLIN; ALK1; MUTATIONS; GENOTYPE;

D O I：

10.1038/ejhg.2009.35

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：860 / 871

页数：12

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