Autosomal dominant polycystic kidney disease (ADPKD) is caused by loss-of-function or
deleterious mutations in the PKD1 or PKD2 genes and is seen with a prevalence of 1: 400 to …

Autosomal Dominant Polycystic Kidney Disease (ADPKD) typically results from a mutation in
the PKD1 and PKD2 genes, which code for polycystin-1 (PC1) and polycystin-2 (PC2) …

Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are
radiologically and pathologically identical to those seen in autosomal dominant polycystic …

Mutations in two different genes account for about 20% of cases with isolated liver cysts
(protein kinase C substrate, 80K-H, PRKCSH, and SEC63, which is a translocation protein …

Background Causative mutations in the GANAB gene have been described in only 14
families, 9 diagnosed with late-onset Autosomal Dominant Polycystic Kidney Disease …

Abstract Background and Aims Autosomal dominant polycystic liver and kidney disease is a
spectrum of hereditary diseases, which display disturbed function of primary cilia leading to …

Polycystic liver disease (PLD) is a rare autosomal dominant disorder including two
genetically and clinically distinct forms: autosomal dominant polycystic kidney disease …

Background: Polycystic liver disease (PLD) is present in most patients with autosomal
dominant polycystic kidney disease (ADPKD). PLD can alternatively be found with few, if …

Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-
onset disease that is an important cause of end-stage renal disease (ESRD), which requires …

Polycystic kidney disease is cilia-related kidney disorder and a common cause of endstage
kidney disease (ESKD) both in children and adults. Autosomal dominant polycystic kidney …