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出血性疾病 ,毛细血管扩张和同一部位反复出血是本病的主要临床表现。人们对其分子生物学发病机制尚未完全了解。近年来 ,随着基因定位克隆技术的发展 ,使人们可以在分子水平对其进行研究 ,发现endoglin基因和ALK1基因突变可分别导致该病 ,并发现了多种突变形式 ,这将有利于阐明HHT的发病机制 ,进而为最终治愈该病奠定基础 Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant hereditary hemorrhagic disease, telangiectasia and repeated bleeding in the same site is the main clinical manifestations of the disease. People have not fully understood the pathogenesis of molecular biology. In recent years, with the development of gene positioning and cloning technology, people can study them at the molecular level and find that the mutations of endoglin gene and ALK1 gene can lead to the disease respectively, and a variety of mutant forms are found, which will be helpful to clarify that HHT The pathogenesis, and thus lay the foundation for the ultimate cure of the disease