Adult Polycystic Kidney Disease (PKD)

Adult Polycystic Kidney Disease Clinic at UVM Health

Polycystic kidney disease is an inherited (genetic) condition in which fluid-filled cysts grow in the kidneys, causing a decline in kidney function.

At University of Vermont Health, we manage adult polycystic kidney disease (APKD) using a clinic approach at locations throughout Vermont and northern New York. Our team of specialists work together to manage every aspect of your health that can affect — or be affected by — kidney disease.

A medical provider conducts an ultrasound of a patient's kidney.

Why Choose UVM Health?

As one of the leading polycystic kidney disease (PKD) care programs in the region, we offer:

Dedicated experts: Our board-certified nephrologists work closely with board-certified neurosurgeons, genetic counselors, dietitians and your primary care physician to make sure you get specialized care.
Comprehensive care for your whole family: Polycystic kidney disease runs in families. Our genetics specialists provide testing and counseling for you and your family, so you can get the answers and care you need.
Advanced research: As part of a health system anchored by an academic center, our physician-leaders participate in research and innovation to improve patient care. Your provider may talk with you about participating in a clinical trial or research study.

What Causes PKD?

Polycystic kidney disease causes sacs filled with fluid (cysts) to grow in the kidneys. Cysts replace healthy kidney tissue, causing the kidney to become enlarged. Cysts may also cause a decline in kidney function or end-stage renal disease (kidney failure).

PKD is caused by changes (mutations) in the PKD1, PKD2 and PKHD1 genes. The type of PKD you have is determined by which gene is mutated and how many copies of that gene are present:

Autosomal dominant polycystic kidney disease (ADPKD): Can result from a mutation in the PKD1 or PKD2 genes. This mutation is typically inherited from one parent. Cysts may be present at birth or grow during childhood, but symptoms of kidney disease may not occur until adulthood.
Autosomal recessive polycystic kidney disease (ARPKD): A rarer form of polycystic kidney disease in which two copies of the PKHD1 gene mutation are inherited, one from each parent. Babies with this condition often have symptoms, even if their parents don’t.

PKD Symptoms

PKD may not cause symptoms when cysts are still small. As cysts grow, symptoms of PKD can include:

Blood in the urine (hematuria)
High blood pressure (hypertension)
Pain in the back or side
Swollen belly (abdomen)

PKD may also cause complications that need treatment, including:

Aneurysm in the main abdominal blood vessel (aorta) or in the brain
Decline in kidney function
Heart and vascular problems
Hypertension
Kidney stones
Urinary tract infections

What to Expect

Our Adult Polycystic Kidney Disease (APKD) Clinic offers comprehensive care, including support with lifestyle changes and treatments to help preserve your kidney function.

When you come to us for care, our nephrologists will complete a thorough review of your medical history. You will also have a physical exam, special CT imaging and tests to assess your kidney function, and we may offer genetic testing to identify the type of polycystic kidney disease you have.

Monitoring APKD

As APKD worsens, kidney function declines. Your nephrologist will monitor you with blood tests to measure levels of a waste product called creatinine and a protein called cystatin C. We use the results of these tests to determine your estimated glomerular filtration rate (eGFR), a measure of how well your kidneys filter blood. This helps us determine how well your kidneys are functioning and your stage of kidney disease.

You may also have a genetic test to assess your risk of passing PKD to your child. If you already have children, we may recommend testing them for PKD as well.

Managing APKD

There isn’t a cure for polycystic kidney disease, but lifestyle changes and medication can help preserve your kidney function.

Our nephrologists, PKD nurses, nutritionists and social workers can help you make lifestyle changes and monitor you for complications of PKD. At every step of your treatment, we help you understand your treatment options and how they may affect your quality of life.

Your nephrologist may recommend tolvaptan to slow kidney function decline or a medication to control your blood pressure if you have hypertension and PKD. High blood pressure can make kidney disease worse.

Our Chronic Kidney Disease Navigator program offers extra support for people whose kidney function has declined to an eGFR of 20 or lower. In this program, our navigators support you in choices about treatments for advanced kidney disease and educate you about treatments for kidney failure, including:

Dialysis, either given in a dialysis center or at home
Kidney transplant
Palliative care to control symptoms

Awards & Certifications

The Polycystic Kidney Disease Foundation

The Polycystic Kidney Disease Foundation has named UVM Health a Center of Excellence. This designation reflects our excellence in diagnosing and treating adults with PKD.