遗传性出血性毛细血管扩张症的临床研究

Clinical research on hereditary hemorrhagic telangiectasia

目的探讨遗传性出血性毛细血管扩张症患者的临床特征、诊断方法及发病机制。方法结合文献报道,分析11例遗传性出血性毛细血管扩张症患者的临床表现、相关辅助检查、染色体变异和遗传病族谱。结果 11例患者中多数有鼻衄症状,全部患者均存在不同程度的皮肤或黏膜下毛细血管扩张,影像学检查发现患者中8例患者存在不同部位的内脏动静脉畸形,行染色体检查的9例患者均发现不同位点的基因突变,10例患者有本病相关家族史。结论遗传性出血性毛细血管扩张症是一种显性常染色体遗传性疾病,影像学检查、染色体分析和遗传学族谱分析是诊断本病的有力方法。

Objective To investigate the clinical features, methods of diagnosis and pathogenesis of hereditary hemorrhagic telangiectasia. Methods According to literature reports, clinical manifestations, related laboratory examinations, chromosomal aberrations and genetic genealogy with 11 cases of hereditary hemorrhagic telangiectasia patients were analyzed. Resuits The majority with epistaxis symptoms were found in 11 patients. All patients had varying degrees of skin or mucosal telangiectasia. By maging studies it found that different parts of the internal organs of arteriovenous malformations in 8 patients. Different sites of the gene mutation were found in 9 patients with chromosomal detection. 10 cases of patients with this disease was related to family history. Conclusion Hereditary hemorrhagic telangiectasia is a dominant autosomal genetic disease. Imaging studies, chromosome analysis and genetic pedigree analysis is a powerful method for diagnosis of the disease.