Cystic kidneys are common causes of end-stage renal disease, both in children and in
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …

Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic
disorder that is characterized by enlarged kidneys with progressive loss of renal function …

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

Autosomal dominant polycystic kidney disease (ADPKD) is typically a late-onset disease
caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early …

Autosomal dominant polycystic liver disease results from mutations in PRKCSH or SEC63.
The respective gene products, glucosidase IIβ and SEC63p, function in protein translocation …

Polycystic kidney disease (PKD), the most common genetic cause of chronic kidney failure,
is characterized by the presence of numerous, progressively enlarging fluid-filled cysts in the …

Autosomal dominant polycystic kidney disease (ADPKD), caused by mutation in PKD1 or
PKD2, is usually an adult-onset disorder but can rarely manifest as a neonatal disease …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common potentially
lethal monogenic disorder, with more than 12 million cases worldwide. The two causative …

Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3–6 per 1000 live
births, account for the most cases of pediatric end‐stage kidney disease (ESKD), and …

Polycystic kidney disease (PKD) can arise from either developmental or postdevelopmental
processes. Recessive PKD, caused by mutations in PKHD1, is a developmental defect …