Polycystic kidney disease is an inherited condition in which clusters of cysts, or fluid-filled sacs, develop in the kidneys. As cysts continue to multiply over time, they can cause the kidneys to enlarge and lose their function. These cysts can become infected or they can bleed and rupture. When the kidneys are massively enlarged, patients can develop flank pain or discomfort. Complications from this disease can lead to cardiovascular disease and kidney failure.

What are the signs and symptoms of polycystic kidney disease?

The most common signs of polycystic kidney disease include:

• High blood pressure
• Back pain or side pain
• Urinary tract infections
• Blood in the urine (hematuria)
• Heart valve abnormalities
• Kidney stones
• Brain aneurysms
• Diverticulosis
• Abdominal wall hernias
• Kidney failure

What causes polycystic kidney disease?

There are two types of polycystic kidney disease:

• Autosomal dominant polycystic kidney disease (ADPKD): this is a common disorder, occurring in roughly 1 in 1000 live births. ADPKD is the most common inherited kidney disease that can progress to kidney failure. ADPKD is the fourth leading cause of end-stage kidney disease in the United States. ADPKD is caused by genetic mutations on either the PKD1 or PKD 2 gene. In most cases, the disease runs in families and is inherited. Only one parent needs to have the condition for it to pass to a child. If one parent has ADPKD, each child has a 50% chance of inheriting the disease. However, up to 10-15% of cases of ADPKD have no family history of the disease. ADPKD’s severity can vary greatly from person to person, as can the age when symptoms start to appear. However, symptoms often develop when patients are in their 30s or 40s. Our Nephrology team at the ADPKD Center are experts in treating polycystic kidney disease.

• Autosomal recessive polycystic kidney disease (ARPKD): less common than ADPKD, symptoms generally appear shortly after birth or in early childhood or adolescence. Both parents must have abnormal genes to pass on this form of the disease. If both parents carry a gene for this disorder, each child has a 25% chance of getting the disease. Our Pediatric Nephrology team members are experts in treating polycystic kidney disease in children.

University of Miami Health System nephrologists (kidney specialists) provide advanced treatments for polycystic kidney disease, including treatments to help slow the rate of kidney cyst growth, prevent declining kidney function, and manage the signs, symptoms, and complications of polycystic kidney disease. We also bring the latest dialysis and kidney transplant approaches. When it comes to kidney transplants, the team has earned recognition for the largest volume in the nation as well as transplant success and patient survival after transplant. We also offer a Kidney Paired Donor Exchange Program, which gives patients in need of a transplant a better chance of finding a match.

The ADPKD Center of the University of Miami provides comprehensive, multidisciplinary and individualized care for patients and families affected by ADPKD. Our integrated care team includes key specialists with expertise in ADPKD, including

• Nephrologists
• Hepatologists
• Cardiologists
• Geneticists and genetic counselors
• Interventional radiologists
• Pain management specialists
• Obstetricians (high-risk pregnancy)
• Neurologists and neurosurgeons

Throughout your care, we work with you to develop a treatment plan that fits your lifestyle.

Tests

Ultrasound
Your doctor may use an ultrasound to look for cysts in your kidneys and confirm the diagnosis of polycystic kidney disease. Ultrasounds use sound waves to create pictures of your kidneys.

CT scan
CT scans use X-rays to create a 3D image of your kidneys to help doctors determine if you have polycystic kidney disease and determine the size and number of kidney cysts.

MRI
Your doctor may request a magnetic resonance imaging (MRI) test, which uses radio waves to form an image of your kidneys to diagnose polycystic kidney disease and determine the size and number of kidney cysts.

Genetic testing and counseling
Your doctor may recommend genetic testing in certain situations, including following atypical imaging or identifying donors for kidney transplantation. Our team also offers genetic testing and counseling related to family planning to help understand the risks of passing this disease on to your child.

Treatments

Pharmaceutical Intervention
Your physician may prescribe tolvaptan (Jynarque), the only FDA-approved treatment for adults at risk of rapidly progressive ADPKD. Tolvaptan is a pill that works to slow down the rate of kidney cyst growth and delay the progression of kidney disease. There is a risk of serious but reversible liver injury with tolvaptan, and it is important to see your nephrologist so that you can be monitored closely for any side effects while taking tolvaptan.

Blood Pressure Management
Controlling your blood pressure can help slow down the rate of kidney cyst growth and delay the progression of polycystic kidney disease. Controlling your blood pressure can also help reduce the risk of heart disease and stroke. Your doctor may recommend diet, exercise, and medication to lower your blood pressure. Medications called angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs) are commonly used to treat high blood pressure in patients with ADPKD.

Pain Management
Your doctor may prescribe medication to manage pain from your cysts. However, if your pain persists, your doctor may refer you to a pain management specialist. Your doctor may also recommend a procedure for drainage (aspiration) of fluid from a cyst using a needle or other surgical approaches to remove cysts if there are large cysts causing pain.

Kidney Transplant
Patients with rapidly progressive ADPKD may develop end-stage kidney disease requiring dialysis or a kidney transplant. Your nephrologist can help determine the best timing for a kidney transplant and refer you to be evaluated at a transplant center. You may be able to have a preemptive kidney transplant, which means getting a transplant before you need to start dialysis. A donated kidney can come from a living donor or a deceased donor.

Dialysis
Dialysis mechanically performs the function of your kidneys, removing waste and excess water from your blood. It’s not a cure for polycystic kidney disease, but if you have developed end-stage kidney disease, it can make you feel better. There are different types of dialysis, which can take place at one of our facilities or at home. Types of dialysis include:

• Hemodialysis: This form of dialysis uses a machine to pump your blood through a filter, called a dialyzer, to clean your blood outside of your body. A doctor (Vascular Surgeon) will do a minor surgery to prepare a vein in your arm for removing and returning blood (this is called a dialysis access, and can be either an “AV fistula” or “AV graft”). During dialysis, blood is taken out of the access point with a needle, passed through the dialyzer, and returned to your body through a different needle. Hemodialysis treatments take a few hours and are performed a few times a week. Hemodialysis can be performed at a dialysis center (in-center hemodialysis) or at home (home hemodialysis).

• Peritoneal Dialysis: This form of dialysis uses your own body to filter blood using a catheter (thin, flexible tube) placed in your belly. In peritoneal dialysis, the inside lining of your belly acts as a natural filter. In a process called an exchange, a solution is passed through the catheter into your belly either by hand or a machine. The solution soaks up waste and excess body fluids and returns them to a collection bag. The procedure is usually performed three or more times a day, and each exchange takes a few hours. Peritoneal dialysis can often be performed at night, while you sleep.

Why Choose UHealth?

Leader in polycystic kidney disease. The ADPKD clinic works to ensure that patients and families receive optimal, personalized and evidence-based care, including the opportunity to participate in clinical trials and access cutting-edge treatments. The clinic provides patients with a comprehensive experience centered on optimizing their care, quality of life and outcomes. Our clinic also provides second opinions and consultations to community providers.

A comprehensive approach to ADPKD.Our team takes a holistic approach to treatment, including assessing risk of progression of ADPKD, evaluation of all symptoms, genetic testing and counseling, and clinical trials.

Nationally recognized kidney care. Our kidney care program has been ranked among the nation’s best programs by U.S. News & World Report for the past nine years. We use preventive approaches to help avoid kidney injury and disease, along with advanced therapies to improve kidney health and function. We offer some of the most advanced kidney therapies, including a clinic dedicated to the treatment of patients receiving tolvaptan.

World-class care in an academic health system. We’re recognized by the National Institutes of Diabetes and Digestive and Kidney Diseases as a Center of Excellence and a leader in treating kidney conditions. Backed by one of the nation’s top universities, our team uses the latest technologies and research-driven expertise to provide you with superior, personalized care and the latest treatment options.

Highest patient survival rate after transplant. The Kidney Transplant Program at the University of Miami Miller School of Medicine/Jackson Health System Miami Transplant Institute performs more than 400 kidney transplants each year. This expertise earned us recognition by the U.S. Department of Health and Human Services for the largest volume in the nation and the highest transplant success and patient survival after kidney transplant. In addition, our Kidney Paired Donor Exchange Program gives those who need a kidney transplant a better chance of finding a match. With this program, donors who aren’t a medical match for the patient can take part in an exchange program that matches them with another recipient or donor.

Convenient dialysis options. We make it easier for you to make dialysis part of your routine. Our multiple locations, easy scheduling and comfortable rooms help you take control of your treatment.