中华耳科学杂志Issue(2)：319-321,3.DOI:10.3969/j.issn.1672-2922.2015.02.030
遗传性出血性毛细血管扩张症Smad4基因的筛查
Smad4 Gene Screening in Patients with Hereditary Hemorrhagic Telangiectasia
籍灵超 1张静 1贾婧杰 1尤少华 1白银 1王洪田1
作者信息
- 1. 解放军总医院耳鼻咽喉头颈外科 北京 100853
- 折叠
摘要
Abstract
Objective Screen hereditary hemorrhagic telangiectasia (HHT) patients for Smad4 gene mutation and audio⁃logical evaluation. Methods According to the clinical diagnostic criteria proposed by Shovlin in 2000, 7 HHT patients with negative ENG and ACVRL1 gene were screened for Smad4 gene mutations and audiological evaluation. Results Smad4 gene mutations were not found in 7 subjects. 2 cases had severe epistaxis and hepatic vascular malformations. All 7 patients did not have hearing loss ,gastrointestinal bleeding or intestinal polyps. Conclusion The correlation among Smad4 gene, HHT and deafness is worth further research. That may provide new insight into pathogenesis and treatment for the disease.关键词
Smad4基因/耳聋/遗传性出血性毛细血管扩张症Key words
Smad4 gene/Hearing loss/Hereditary hemorrhagic telangiectasia分类
医药卫生引用本文复制引用
籍灵超,张静,贾婧杰,尤少华,白银,王洪田..遗传性出血性毛细血管扩张症Smad4基因的筛查[J].中华耳科学杂志,2015,(2):319-321,3.
