Polycystic Kidney Disease
Conditions We Treat
Polycystic Kidney Disease
PKD is a genetic condition that requires lifelong specialist management. Early intervention, careful monitoring, and the right treatment can preserve kidney function for decades.
What is polycystic kidney disease?
Polycystic kidney disease (PKD) is a genetic disorder in which clusters of cysts — fluid-filled sacs — develop in the kidneys, gradually enlarging them and impairing their function. It is the fourth leading cause of kidney failure in the United States and affects approximately 600,000 Americans.
The most common form, autosomal dominant PKD (ADPKD), is caused by mutations in the PKD1 or PKD2 genes. It is inherited — each child of an affected parent has a 50% chance of inheriting the condition. Symptoms typically appear in adulthood, between ages 30 and 50, though cysts begin forming in childhood. The rarer autosomal recessive form (ARPKD) presents in infancy or early childhood and is more severe.
PKD affects more than the kidneys. Cysts can also develop in the liver and pancreas. Patients with ADPKD have an elevated risk of intracranial aneurysms, heart valve abnormalities, and diverticular disease. Comprehensive management addresses all of these dimensions.
Key Facts
How we approach PKD
Genetic counseling and family screening
PKD is inherited. We discuss genetic testing, family screening, and the implications for children and siblings of affected patients.
Total kidney volume monitoring
MRI-based total kidney volume measurement is the best predictor of progression in ADPKD. We use it to identify rapid progressors who may benefit from tolvaptan therapy.
Tolvaptan therapy for rapid progressors
Tolvaptan (Jynarque) is FDA-approved for adults with ADPKD at risk of rapid progression. It slows cyst growth and preserves kidney function. We manage the monitoring required for safe use.
Complication management
Cyst infections, cyst hemorrhage, kidney stones, and intracranial aneurysms are all PKD complications requiring specialist management. We screen and treat proactively.
Frequently asked questions
What is polycystic kidney disease?
Polycystic kidney disease (PKD) is a genetic disorder in which clusters of fluid-filled cysts develop in the kidneys, gradually enlarging them and impairing their function. The most common form, ADPKD, is caused by mutations in the PKD1 or PKD2 genes.
Is PKD hereditary?
Yes. Autosomal dominant PKD (ADPKD) is inherited — each child of an affected parent has a 50% chance of inheriting the condition. Genetic testing can confirm the diagnosis and identify the specific mutation.
What are the symptoms of PKD?
Early PKD is often asymptomatic. As cysts enlarge, patients may develop flank pain, hematuria (blood in the urine), urinary tract infections, kidney stones, and high blood pressure. Kidney function typically begins to decline in the 30s–50s.
What is tolvaptan and who should take it?
Tolvaptan (Jynarque) is an FDA-approved medication that slows cyst growth in ADPKD. It is indicated for adults with rapidly progressing disease, defined by total kidney volume and eGFR criteria. It requires regular liver function monitoring.
Related conditions
PKD requires lifelong specialist management.
Our nephrologists manage PKD from diagnosis through transplant evaluation. Accepting new patients in Newport Beach.