Also known as: Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Polycystic kidney disease is a genetic disorder causing numerous fluid-filled cysts to grow in the kidneys, gradually replacing normal tissue and potentially leading to kidney failure.
ADPKD is the most common inherited kidney disease, affecting approximately 1 in 400-1,000 people. It accounts for 5-10% of end-stage kidney disease cases.
The disease is caused by mutations in PKD1 (85% of cases, more severe) or PKD2 (15%, milder course) genes. Cysts develop throughout life, gradually enlarging the kidneys and destroying functioning tissue.
Tolvaptan, a vasopressin receptor antagonist, is the first disease-modifying therapy shown to slow cyst growth and kidney function decline.
People with Polycystic Kidney Disease often experience the following symptoms.
Dull, chronic pain from enlarged kidneys or acute pain from cyst rupture or haemorrhage.
Often the earliest manifestation, occurring before kidney function decline. Affects 60% of patients.
Blood in urine from cyst rupture, usually self-limiting but can be alarming.
Liver cysts develop in 80% of patients, usually asymptomatic but can cause abdominal distension.
Certain factors may increase your likelihood of developing Polycystic Kidney Disease.
Common approaches to managing polycystic kidney disease. Always consult a healthcare provider for personalized treatment.
Vasopressin receptor antagonist that slows cyst growth and GFR decline. Requires liver monitoring.
Aggressive BP management (target <110/75 in young patients) with ACE inhibitors or ARBs.
Analgesics, cyst aspiration, or renal denervation for chronic pain.
Definitive treatment for end-stage kidney disease. Living donor transplant preferred.
Ultrasound showing multiple bilateral renal cysts (age-specific criteria). MRI for accurate cyst volume measurement. Genetic testing if diagnosis is uncertain.
See a doctor if you have a family history of PKD and develop high blood pressure, blood in urine, recurrent kidney infections, or persistent flank pain.
Steps that may help reduce the risk of developing or worsening polycystic kidney disease.
No prevention for the genetic disease
Early blood pressure control slows progression
Adequate hydration (3+ litres daily)
Genetic counselling for family planning
If left untreated or poorly managed, polycystic kidney disease may lead to:
ADPKD is inherited in an autosomal dominant pattern — 50% chance of passing it to each child. De novo mutations account for 10%.
Not currently. Tolvaptan slows progression and kidney transplant treats end-stage disease.
Yes. First-degree relatives of PKD patients should be screened with ultrasound and blood pressure monitoring.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.