Polycystic Kidney Disease

What is Polycystic Kidney Disease?

Polycystic kidney disease (PKD) is a rare genetic disorder that causes cysts filled with fluid to grow in the kidneys. These cysts can affect how the kidneys work. If numerous cysts grow or become enlarged, it can lead to kidney failure. PKD may also cause cysts in the liver, pancreas, heart, or blood vessels of the brain. It is the 4th leading cause of kidney failure, affecting around 600,000 people in the U.S.

Types of Polycystic Kidney Disease

Autosomal dominant PKD (ADPKD)

Most common form
Symptoms appear typically between ages 30-40
Inherited when one parent carries the mutated gene
About 50% of people with ADPKD develop kidney failure by the age of 50

Autosomal recessive PKD (ARPKD)

Rare form
Symptoms appear in infancy or early childhood
Both parents must carry the mutated gene
May lead to early kidney and liver problems

Symptoms of PKD

PKD may not cause symptoms until cysts are large. Common signs include:

Belly pain
Noticeable belly mass
Easy bruising or pale skin color
High blood pressure
Kidney stones
Pouches in the intestines (diverticulitis)
Urinary tract infections
Blood in the urine

Schedule an appointment with a UR Medicine provider.

Call (585) 275-4517

UR Medicine's Treatments for Polycystic Kidney Disease

Diagnosis

UR Medicine’s nephrology team will use:

Blood and urine tests
Imaging (CT, MRI or ultrasound)
Family history

Treatment and Management

While there is no known cure for PKD, UR Medicine offers several ways to reduce cyst growth:

Tolvaptan: FDA-approved medication that slows cyst growth; used only after discussing side effects with a nephrologist
Lifestyle changes: maintain healthy weight, stay hydrated, reduce salt and caffeine, stop smoking, and exercise
Blood pressure control: ACE inhibitors or ARBs essential for preserving kidney function
Symptom relief: pain management, cyst drainage or surgery for large cysts, and antibiotics for infections
Advanced options: dialysis or kidney transplant if kidney failure occurs

What Sets Us Apart?

Our Nephrology Division, which treats kidney patients, has been recognized by U.S. News & World Report for years as one of the top adult nephrology care centers in the country.

Our nephrologists serve as medical directors for 12 dialysis units, providing care to over 600 dialysis patients, and provide ongoing care to 650 kidney transplant recipients.

Our nephrologists work closely with UR Medicine’s Advanced Heart Failure Program, providing Nephrologic care to patients with Ventricular Assist Devices and Total Artificial Heart Implantation.

We have a diverse group of physicians interested in the entire spectrum of nephrology services.

Because we’re an academic medical center, we also lead research studies with funding from the National Institutes of Health, the National Science Foundation, and other sources. So we’re aware of the latest developments in care.