Autosomal dominant polycystic kidney disease (ADPKD), is an inherited, progressive nephropathy and is the third most common cause of end stage kidney disease after diabetes mellitus and hypertension.
ADPKD
The estimated genetic prevalence of ADPKD is between 1:400 and 1:1000 individuals. It is caused by mutations in either the PKD1 or PKD2 gene and is characterized mainly by bilateral kidney cysts, liver cysts, hypertension, and an increased risk of intracranial aneurysms. It affects approximately 15 million people worldwide with 50% risk for end-stage kidney disease, 80% risk for hypertension, 60% risk for painful kidney complications, 20% risk for symptomatic polycystic liver disease and 3% risk for intra-cerebral aneurysm rupture.
Current treatments for ADPKD aim to slow the kidney function decline and to reduce extrarenal complications.
- Tolvaptan (V2 receptor antagonist) is approved for the management of rapid disease progression.
- Standard of care for hypertension treatment such as angiotensin-converting enzyme (ACE) inhibitor or an angiotensin receptor blocker (ARB) are also used.
- Increasing fluid intake (>3 L per day) to decrease plasma vasopressin levels is recommended but a water intake of this magnitude is difficult to attain.