Hereditary haemorrhagic telangiectasia:: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations
Hereditary haemorrhagic telangiectasia:: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations
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DOI：
10.1136/jmg.40.8.585
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发表时间：
2003-08-01
影响因子：
4
通讯作者：
Guttmacher, A
中科院分区：
文献类型：
--
作者：
Berg, J;Porteous, M;Guttmacher, A
背景资料：遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性遗传性血管发育不良，其特征为粘膜皮肤毛细血管扩张、鼻衄、胃肠道出血和肺和脑动静脉畸形。HHT的致病突变已被确定在两个基因，内皮糖蛋白和ALK 1，编码蛋白参与丝氨酸-苏氨酸激酶信号在endothelialcell.Methods：一些人受HHT已经完成了邮政问卷的一部分，国际研究描绘HHT表型。我们确定了由我们已经确定内皮糖蛋白或ALK 1突变的受试者完成的问卷。进一步的调查问卷被发送到已知突变的家庭。数据只包括从已知携带致病突变的人返回的问卷调查。结果：83名已知突变的受试者完成了问卷调查。其中，49例有endoglin突变（HHT 1），34例有ALK 1突变（HHT 2）。HHT 1受试者报告的鼻衄（p=0.01）和毛细血管扩张（p=0.0001）发生时间早于HHT 2受试者。在我们的研究中，肺动静脉畸形仅在内皮糖蛋白突变组中有报道（p
Background: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterised by mucocutaneous telangiectasis, epistaxis, gastrointestinal haemorrhage, and arteriovenous malformations in the lung and brain. Causative mutations for HHT have been identified in two genes, endoglin and ALK1, which encode proteins involved in serine-threonine kinase signalling in the endothelial cell.Methods: A number of people affected with HHT had completed a postal questionnaire as part of an international study to delineate the HHT phenotype. We identified questionnaires completed by subjects in whom we had identified a mutation in endoglin or ALK1. Further questionnaires were sent to families with known mutations. Data were only included from questionnaires returned by people known to carry disease causing mutations.Results: Questionnaires were completed by 83 subjects with known mutations. Of these, 49 had endoglin mutations (HHT1) and 34 had ALK1 mutations (HHT2). Subjects with HHT1 reported an earlier onset of epistaxis (p=0.01) and telangiectasis (p=0.0001) than those with HHT2. Pulmonary arteriovenous malformations were only reported in the endoglin mutation group in our study (p