出血性毛细血管扩张症的临床/遗传表现-猫眼课题宝

出血性毛细血管扩张症的临床/遗传表现

批准号：

6247148

负责人：

ROBERT I WHITE

金额：

$2.68万

依托单位：

YALE UNIVERSITY

依托单位国家：

美国

项目类别：

财政年份：

1997

资助国家：

美国

项目状态：

已结题

起止时间：

1997-04-01 至 1997-11-30

来源：

https://reporter.nih.gov/project-details/6247148

关键词：

blood vessel disorder clinical research congenital cardiovascular disorder diagnosis quality /standard family genetics gene mutation genetic disorder diagnosis genetic registry /resource /referral center human subject medical complication phenotype sign /symptom telangiectasia

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英文摘要

The primary aim of this protocol is to: 1) develop a registry for herediatary hemorrhagic telangiectasia (HHT) to characterize systematically the clinical presentation, the prevalance of particular manifestations and the natural history of this disorder, linking these phenotypic subtypes to particular genetic defects that have been and are in the process of being identified and; 2) to determine the prevalance of pulmonary arteriovenous malformation (pAVM) in asymptomatic patients with HHT, to study if certain patient subgroups or families are at increased risk of pAVM and to document the sensitivity and specificity of commonly used screening tests for the detection of pAVM.

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