Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal,
monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which …

A number of inherited disorders result in renal cyst development. The most common form,
autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed …

Polycystic liver disease (PLD) is the result of embryonic ductal plate malformation of the
intrahepatic biliary tree. The phenotype consists of numerous cysts spread throughout the …

Autosomal dominant polycystic kidney disease (ADPKD) caused by mutations in PKD1 is
significantly more severe than PKD2. Typically, ADPKD presents in adulthood but is rarely …

Autosomal dominant polycystic kidney disease (ADPKD) often results in ESRD but with a
highly variable course. Mutations to PKD1 or PKD2 cause ADPKD; both loci have high …

Background COL4A3, COL4A4, and COL4A5 are the only collagen genes that have been
implicated in inherited nephropathies in humans. However, the causative genes for a …

Intracranial aneurysms are acquired lesions (5–10% of the population), a fraction of which
rupture leading to subarachnoid hemorrhage with devastating consequences. Until now, the …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary
kidney disease. Relentless cyst growth substantially enlarges both kidneys and culminates …

Autosomal dominant polycystic kidney disease is a genetic disorder associated with
substantial variability in its natural course within and between affected families …

The polycystic kidney diseases (PKD) are a group of genetic disorders causing renal failure
and death from infancy to adulthood. Arginine vasopressin (AVP) V2 receptor antagonists …