Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.

ABSTRACT: Polycystic liver disease (PCLD) is characterized by the growth of fluid-filled cysts of biliary epithelial origin in the liver. Although the disease is often asymptomatic, it can, when severe, lead to complications requiring surgical therapy. PCLD is most often associated with autosomal dominant polycystic kidney disease (ADPKD); however, families with an isolated polycystic liver phenotype without kidney involvement have been described. The clinical presentation and histological features of polycystic liver disease in the presence or absence of ADPKD are indistinguishable, raising the possibility that the pathogenetic mechanisms in the diseases are interrelated. We ascertained two large families with polycystic liver disease without kidney cysts and performed a genomewide scan for genetic

SUBMITTER: Reynolds DM 

PROVIDER: S-EPMC1287938 | biostudies-literature | 2000 Dec

REPOSITORIES: biostudies-literature