Institutional Registry of Haemorrhagic Hereditary Telangiectasia
关键词
抽象
描述
Haemorrhagic Hereditary Telangiectasia is a uncommon autosomic hereditary disorder caracterizad for recurrent epistaxis,cutaneomucous telangiectasias and arteriovenous malformations in diferent organs; brain, lung, liver and gastrointestinal are more often afected . Afect one in 5000-8000 individual in worldwide. HHT may produce important morbidity like brain absces, stroke, hemoptisis and cronic ferropenic anemia.
Molecular mechanism of this disorder are complex and still no fully dilucidated. The genes mutated in HHT encode endothelial cell-expressed proteins that mediate signalling by the transforming growth factor (TGF)b superfamily. Endoglin (HHT type I) and ACVRL-1 (HHT type 2) mutations are responsible in more than 80% of the individuals. Mutation of SMAD 4 protein (MADH4)cause HHT in association with juvenile polyposis. HHT may associated with primary pulmonary hypertension en more rare cases.
There arent HHT register in Argentina and Latinamerican population. This registry may gader valious information in order to generate a better diagnosis and treatment of our population and others.
日期
| 最后验证: | 11/30/2015 |
| 首次提交: | 01/02/2013 |
| 提交的预估入学人数: | 01/02/2013 |
| 首次发布: | 01/06/2013 |
| 上次提交的更新: | 12/15/2015 |
| 最近更新发布: | 12/16/2015 |
| 实际学习开始日期: | 05/31/2012 |
| 预计主要完成日期: | 05/31/2017 |
| 预计完成日期: | 11/30/2017 |
状况或疾病
相
资格标准
| 有资格学习的性别 | All |
| 取样方式 | Probability Sample |
| 接受健康志愿者 | 是 |
| 标准 | Inclusion Criteria: 1. Patients with HHT defined. 2. Followed in Unidad HHT of Hospital Italiano de Buenos Aires. Exclusion Criteria: 1. Denied to participated in the registry or inform consent process. |
结果
主要结果指标
1. morbidity [1 year]
