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

目的检查遗传性出血性毛细血管扩张症(HHT)患者中Smad4基因突变及听力情况。方法根据2000年Shovlin提出的临床诊断标准,对7例ENG和ACVRL1基因筛查均阴性的HHT患者进行Smad4基因筛查和听力检查。结果 7例患者smad4基因测序均未发现突变位点,2例患者除严重鼻出血外还伴肝脏血管畸形,7例患者均无听力障碍、胃肠出血者及肠息肉患者。结论 Smad4基因与HHT、耳聋的相关性值得进一步研究,为疾病诊疗提供新的思路。

Objective Screen hereditary hemorrhagic telangiectasia （HHT） patients for Smad4 gene mutation and audiological 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.