成人多囊肾是一种发病率高、病情严重、分布广泛的一种疾病，它在遗传上有异质性。近几年，随着对引起该疾病的主要基因ＰＫＤＩ和ＰＫＤ２的克隆测序完成，对于这两个基因的基因结构、分子机理和该疾病的基因诊断研究取得了重大的进展。本文拟就对这些进展作以综述。 Adult polycystic kidney disease is a high incidence, serious condition, a widespread disease, it is genetically heterogeneous. In recent years, with the completion of cloning and sequencing of the major genes causing this disease, PKDI and PKD2, great advances have been made in the gene structure, molecular mechanism and genetic diagnosis of these two genes. This article is intended to give an overview of these developments.