Autosomal dominant polycystic liver disease: a second family

Abstract

An autosomal dominant pattern of transmission has been established for polycystic kidney disease. The degree of cystic involvement of other organs has been variable. The genetic pattern of transmission of polycystic liver disease independent of cystic kidney disease has never been established. We present a second family with polycystic liver disease without kidney disease. The lack of renal cysts is unlikely to be due to variable expressivity and penetrance of the gene for polycystic kidney disease. The liver cysts may be of late onset since none of the proband's four children demonstrate cysts. Alternatively, none of these four individuals may have received the gene for polycystic liver disease from their affected mother. The family described supports an autosomal dominant pattern of inheritance for polycystic liver disease.

Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases

“…Polycystic liver disease was long thought to be a phenotypic variant of ADPKD (7). The finding of isolated polycystic livers in autopsy studies and the identification of whole families with dominantly inherited polycystic livers caused a paradigm shift (1)(2)(3)(4)8). Indeed, the discovery of mutations in two genes, PRKCSH and SEC63, confirmed that PCLD is a disorder distinct from ADPKD (6,(9)(10)(11).…”

Isolated Polycystic Liver Disease

“…A subsequent report in 1982 of two large, four-generation kindreds substantiated this assumption and revealed not only its existence but also its autosomal dominant pattern of inheritance(4). …”

Portal hypertension in polycystic liver disease patients does not affect wait-list or immediate post-liver transplantation outcomes

“…Polycystic liver disease (PCLD) is an autosomal dominant condition that has 2 forms - either occurring in isolated form or combined with cysts in extra-hepatic organs[1,2]. Of those patients who have PCLD associated with extra-hepatic cysts, 80%-90% have renal cysts and can develop progressive renal impairment ultimately leading to end-stage renal failure (ESRF).…”