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 …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations to PKD1 or
PKD2, triggering progressive cystogenesis and typically leading to end-stage renal disease …

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) is characterized by the progressive
development of kidney cysts, often resulting in end-stage renal disease (ESRD). This …

Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate
accumulation in the kidneys and other organs. Three loci have been identified: AGXT (PH1), …

Mutations in two large multi-exon genes, PKD1 and PKD2, cause autosomal dominant polycystic
kidney disease (ADPKD). The duplication of PKD1 exons 1–32 as six pseudogenes on …

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 within a …

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 levels of …

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized
by the accumulation of kidney cysts that ultimately leads to loss of renal function and kidney …

Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited nephropathy
responsible for 4%–10% of end-stage renal disease cases. Mutations in the genes …