Isolated
polycystic liver disease as a distinct genetic disease, unlinked to polycystic
kidney disease 1 and polycystic kidney disease 2. Pirson Y, Lannoy
N, Peters D, Geubel A, Gigot JF, Breuning M, Verellen-Dumoulin C Hepathology
1996; 23: 249-252
Polycytic liver disease
(PLD) is proven to occur either sporadically or in association with autosomal
dominant polycystic kidney disease (ADPKD) whereas the existance of an
isolated (i;e;, without any kidney cyst) familial form is disputed. We
describe a familly with definitively isolated PLD transmitted through three
generations and exclude the linkage of the disease to the genetic markers
PKD1 and PKD2, the two main loci responsible for ADPKD. These findings
strongly support the existance of PLD as a genetic disease distinct from
the known forms of ADPKD.