Autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD), also known as adult polycystic kidney disease, is the most common hereditary kidney disorder and one of the most frequent life-threatening genetic diseases. It is caused by pathogenic variants in the PKD1 gene (approximately 78% of cases) or the PKD2 gene (approximately 15% of cases), with a smaller proportion linked to other genes such as GANAB and DNAJB11. The disease is characterized by the progressive development and enlargement of fluid-filled cysts in both kidneys, leading to massive kidney enlargement and gradual loss of kidney function over decades. ADPKD is a systemic disorder that affects multiple organ systems beyond the kidneys. Hepatic (liver) cysts are the most common extrarenal manifestation, occurring in the majority of patients. Other important features include intracranial aneurysms (occurring in approximately 5-10% of patients), cardiac valve abnormalities (particularly mitral valve prolapse), pancreatic cysts, seminal vesicle cysts, and abdominal wall hernias. Patients commonly experience hypertension (high blood pressure), which often develops before any decline in kidney function, as well as flank or abdominal pain, hematuria (blood in the urine), urinary tract infections, and kidney stones. Approximately 50% of affected individuals progress to end-stage kidney disease (ESKD) requiring dialysis or kidney transplantation, typically by the fifth or sixth decade of life, though PKD2-related disease tends to have a milder course with later onset of ESKD. Management of ADPKD has historically focused on controlling blood pressure, managing pain, treating urinary tract infections, and providing renal replacement therapy when needed. A significant advance in treatment came with the approval of tolvaptan, a vasopressin V2 receptor antagonist, which has been shown to slow the rate of kidney growth and decline in kidney function in adults at risk of rapidly progressive disease. Patients require regular monitoring of kidney function, liver cysts, and screening for intracranial aneurysms in those with a family history of aneurysm or subarachnoid hemorrhage. Genetic counseling is recommended for affected families.

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Data is compiled from FDA regulatory filings and ClinicalTrials.gov, then processed through automated extraction; event classifications and dates may occasionally be misclassified. Verify against the linked FDA filing or trial record before clinical decisions. Updated periodically.

Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly

FDA-approved (1)

Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest

Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · NORD partners highlighted · ordered by verified-leader / active-researcher / listed-specialist tier

Source: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months

Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC

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