骨形态形成蛋白-Ⅱ型受体基因突变与特发性肺动脉高压

Bone morphogenic protein receptor-Ⅱ mutation and idiopathic pulmonary arterial hypertension

特发性肺动脉高压（idiopathic pulmonary arterial hypertension,IPAH）是一种病因尚未明确的严重疾病,最终发生右心衰,预后不佳。近年的研究表明IPAH是遗传和环境共同作用的结果,其中遗传因素占主要地位。IPAH的致病基因-编码骨形态形成蛋白-Ⅱ型受体（BMPR-Ⅱ）基因已找到,下面就IPAH与BMPR-Ⅱ基因突变的关系研究进展作一简单综述。

Idiopathic pulmonary arterial hypertension（IPAH） is a lethal disease with no identifiable cause,leading to right ventricular failure and poor prognosis. Recently it has been found that IPAH is linked to both genetic factors and environmental exposures,and the former is dominant. A cause for IPAH has been identified as mutations in the gene encoding bone morphogenic protein receptor-Ⅱ （BMPR-Ⅱ）. In the following,a brief review is given on the relationship between IPAH and BMPR-Ⅱ mutation.