Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large. Having many cysts or large cysts can damage your kidneys.
Polycystic kidney disease can also cause cysts to develop in your liver and elsewhere in your body. The disease can cause serious complications, including high blood pressure and kidney failure.
PKD varies greatly in its severity, and some complications are preventable. Lifestyle changes and treatments might help reduce damage to your kidneys from complications.
Polycystic kidney disease symptoms can include:
It's not uncommon for people to have polycystic kidney disease for years without knowing it.
If you develop some of the signs and symptoms of polycystic kidney disease, see your doctor. If you have a first-degree relative — parent, sibling or child — with polycystic kidney disease, see your doctor to discuss screening for this disorder.
Abnormal genes cause polycystic kidney disease, which means that in most cases, the disease runs in families. Sometimes, a genetic mutation occurs on its own (spontaneous), so that neither parent has a copy of the mutated gene.
The two main types of polycystic kidney disease, caused by different genetic flaws, are:
Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of ADPKD often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but children can develop the disorder.
Only one parent needs to have the disease for it to pass to the children. If one parent has ADPKD, each child has a 50% chance of getting the disease. This form accounts for most of the cases of polycystic kidney disease.
Autosomal recessive polycystic kidney disease (ARPKD). This type is far less common than is ADPKD. The signs and symptoms often appear shortly after birth. Sometimes, symptoms don't appear until later in childhood or during 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.
Complications associated with polycystic kidney disease include:
Loss of kidney function. Progressive loss of kidney function is one of the most serious complications of polycystic kidney disease. Nearly half of those with the disease have kidney failure by age 60.
PKD can interfere with the ability of your kidneys to keep wastes from building to toxic levels, a condition called uremia. As the disease worsens, end-stage kidney (renal) disease may result, necessitating ongoing kidney dialysis or a transplant to prolong your life.
If you have polycystic kidney disease and you're considering having children, a genetic counselor can help you assess your risk of passing the disease to your offspring.
Keeping your kidneys as healthy as possible may help prevent some of the complications of this disease. One of the most important ways you can protect your kidneys is by managing your blood pressure.
Here are some tips for keeping your blood pressure in check:
For polycystic kidney disease, certain tests can detect the size and number of kidney cysts you have and evaluate the amount of healthy kidney tissue, including:
The severity of polycystic kidney disease varies from person to person — even among members of the same family. Often, people with PKD reach end-stage kidney disease between ages 55 to 65. But some people with PKD have a mild disease and might never progress to end-stage kidney disease.
Treating polycystic kidney disease involves dealing with the following signs, symptoms and complications in their early stages:
Kidney cyst growth. Tolvaptan therapy may be recommended for adults at risk of rapidly progressive ADPKD. Tolvaptan (Jynarque, Samsca) is a pill that you take by mouth that works to slow the rate of kidney cyst growth and the decline in how well your kidneys work.
There's a risk of serious liver injury when taking tolvaptan, and it can interact with other medicines you take. It's best to see a doctor who specializes in kidney health (nephrologist) when taking tolvaptan, so that you can be monitored for side effects and possible complications.
High blood pressure. Controlling high blood pressure can delay the progression of the disease and slow further kidney damage. Combining a low-sodium, low-fat diet that's moderate in protein and calorie content with not smoking, increasing exercise and reducing stress may help control high blood pressure.
However, medications are usually needed to control high blood pressure. Medications called angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs) are often used to control high blood pressure.
Aneurysms. If you have polycystic kidney disease and a family history of ruptured brain (intracranial) aneurysms, your doctor may recommend regular screening for intracranial aneurysms.
If an aneurysm is discovered, surgical clipping of the aneurysm to reduce the risk of bleeding may be an option, depending on its size. Nonsurgical treatment of small aneurysms may involve controlling high blood pressure and high blood cholesterol, as well as quitting smoking.
Early treatment offers the best chance of slowing polycystic kidney disease progression.
As with other chronic illnesses, having polycystic kidney disease might feel overwhelming. The support of friends and family is important in dealing with a chronic illness. In addition, a counselor, psychologist, psychiatrist or clergy member may be able to help.
You might also consider joining a support group. Although not for everyone, support groups can provide helpful information about treatments and coping. And being with people who understand what you're going through might make you feel less alone.
Ask your doctor about support groups in your community.
You're likely to start by seeing your primary care provider. However, you might be referred to a doctor who specializes in kidney health (nephrologist). You may benefit from starting a specialized treatment early on in the course of the disease, even if blood tests show that you still have normal kidney function.
Here's some information to help you get ready for your appointment.
When you make the appointment, ask if there's anything you need to do in advance, such as fasting before having a specific test. Make a list of:
Take a family member or friend along, if possible, to help you remember the information you receive.
For polycystic kidney disease, questions to ask your doctor include:
Don't hesitate to ask other questions.
Your doctor is likely to ask you questions, such as:
© 1998-2021 Mayo Foundation for Medical Education and Research (MFMER). All rights reserved.