Polycystic kidney disease (PKD) symptoms, treatments & causes

Polycystic kidney disease (PKD) is a genetic disease that causes many cysts to grow inside your kidneys. There are two types of PKD: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) . PKD causes chronic kidney disease (CKD), which can lead to kidney failure, or end-stage renal disease (ESRD). PKD causes about 2% (2 out of every 100) of the cases of kidney failure in the United States each year.

What are the two types of PKD?

There are two types of PKD: autosomal dominant PKD and autosomal recessive PKD. 

Download the ADPKD fact sheet

to learn more about ADPKD and how to find out if you have it

What causes PKD?

A change (mutation) in your genes causes PKD. Genes are part of your cells that contain DNA and tell your cells what to do. DNA is found inside every cell in our body and carries information that gets passed from one generation to the next. DNA codes for different traits, such as eye color, body type and sex. 

PKD is almost always passed down from a parent or from both parents to their child. There is no way to prevent either type of PKD.

If you have a blood relative with PKD, you are more likely to have PKD or carry the changed gene that causes it (this is called a "carrier"). A carrier means that you have one copy of the gene that causes PKD and could pass the gene to your biological children, but do not have PKD yourself. It is possible to be a carrier of the gene that causes autosomal recessive PKD. It is not possible to be a carrier of the gene that causes ADPKD–you only need to have one copy of this gene to have ADPKD.

What is autosomal dominant PKD (ADPKD)?

Autosomal dominant PKD (ADPKD) is the most common type of PKD and one of the most common genetic kidney diseases. About 9 out of every 10 people with PKD have ADPKD. ADPKD causes cysts to grow in your kidneys and can also affect other organs, especially the liver. 

What causes ADPKD?

ADPKD is caused by a change (mutation) in a specific gene. Most people with ADPKD have a change in one of these genes: PKD1 or PKD2. ADPKD runs in families and does not skip a generation. This means that if you have ADPKD, it is very likely one of your parents also had or has a change to the PKD1 or PKD2 gene, even if they have not been diagnosed.  You only need to have one copy of the changed gene to have ADPKD. It is almost always passed down from a parent with ADPKD to their child:

• You only need to have one parent with ADPKD to be born with it yourself. 
• If just one of your parents has ADPKD, you have a 50% chance of being born with it.
• If both of your parents have ADPKD, you have a 75% chance of being born with it.

The genetic change that causes ADPKD can sometimes happen on its own during your life, without either of your parents having passed the changed gene to you. But this only happens in 1 out of every 10 people with ADPKD.

What are the symptoms of ADPKD?

Symptoms usually start when you are between 30 and 50 years old. Symptoms include:

• Pain in your back and sides
• Headaches
• Blood in your urine (pee)
• High blood pressure
• UTIs (urinary tract infections) 
• Kidney stones

If you have any of these symptoms or a blood relative with PKD, talk with your doctor.

How will I know if I have ADPKD?

Your doctor will do tests to know if you have ADPKD, such as:

• Imaging tests to look for visible signs of cysts in your kidneys, such as ultrasound, CT scans and MRI scans
• Genetic tests to look for changes in the gene that causes ADPKD, using a sample of your blood or saliva (spit)

What other health problems can ADPKD cause?

When your kidneys are not working as well as they should, it can cause other health problems such as:

• Kidney pain
• High blood pressure
• Kidney failure or ESRD–more than half of people with ADPKD have kidney failure by age 70 and it happens more in Black people compared to white people
• UTIs (urinary tract infections) 
• Kidney stones
• Cysts in your pancreas or liver
• Heart problems
• Colon problems
• Brain aneurysms (a bulge in a blood vessel in the brain)
• A problem during pregnancy called preeclampsia (a type of high blood pressure)

How do doctors care for ADPKD?

There is no cure for ADPKD. Your doctor can recommend strategies to manage some of the symptoms and health problems caused by ADPKD. There is also an option that can slow the progression of ADPKD to kidney failure. 

Talk to your doctor about the best ways to care for ADPKD. You can also ask your doctor if there are any clinical trials studying treatments for ADPKD that you could take part in.

How can I prevent ADPKD from causing kidney failure?

After you find out that you have ADPKD, it is important to work with your doctor to understand your risk for progressing to kidney failure and learn about what you can do to manage it. Following your management plan and making healthy life changes may be able to help you keep your kidneys working longer and slow progression to kidney failure. 

Take these steps to slow the damage to your kidneys:

• Work with your doctor to prevent or manage diabetes and high blood pressure.
• Keep a healthy weight.
• Take all of your prescription medicines as your doctor tells you.
• Follow a kidney-friendly eating plan. A dietitian can help you make a plan that works for you.
• Be active for at least 30 minutes most days of the week.
• Drink less alcohol. The healthy guidelines for drinking alcohol are:
  • For men: No more than two drinks per day
  • For women: No more than one drink per day
• Quit smoking or using tobacco. 

Some people with ADPKD are at a higher risk for progressing to kidney failure than others. If your kidneys fail, you will need to start dialysis or have a kidney transplant to live. Learn more about preparing for a kidney transplant.  

What is autosomal recessive PKD (ARPKD)?

Autosomal recessive PKD (ARPKD) is a much less common type of PKD. ARPKD causes cysts to grow in your kidneys. Like ADPKD, ARPKD can also affect the liver. 

What causes ARPKD?

ARPKD is caused by a change in a specific gene called PKHD1 that is passed down from both parents to their child. Both parents need to be carriers of the changed PKHD1 gene for their child to be born with ARPKD. A carrier is someone who has the changed gene but does not have the disease. It usually does not affect every generation of a family.

When both parents are carriers of the gene that causes ARPKD, their child has a:

• 1 in 4 (25%) chance of being born with ARPKD
• 1 in 2 (50%) chance of being a carrier of the gene that causes ARPKD 
• 1 in 4 (25%) chance of neither having ARPKD or being a carrier of the gene

What are the symptoms of ARPKD?

Symptoms can start before a baby is born, at birth or in childhood. 

Symptoms before a baby is born

• Ultrasound images the mother has while pregnant show that the unborn baby's kidneys are larger than they should be 
• Not enough amniotic fluid around the baby–amniotic fluid is the liquid that surrounds and protects the baby in the mother's womb. In the middle to later months of pregnancy, the baby's kidneys should make amniotic fluid. Some babies with ARPKD have damaged kidneys even before birth, and their kidneys cannot make enough amniotic fluid. 

Symptoms at birth

• Swollen belly
• High blood pressure
• Breathing problems
• Throwing up breast milk or formula after feeding
• Problems with how the baby's face, arms and legs grow

Symptoms in childhood

Some children with ARPKD may not have any symptoms. Children with more severe ARPKD may have:

• High blood pressure
• UTIs (urinary tract infections)
• Pain in their back or side
• Varicose veins (large veins that you can see through their skin, often in their legs)
• Lower than average height and weight

How will I know if I have ARPKD?

Doctors can do genetic testing to look for changes in the gene PKHD1 that causes ARPKD. They can do genetic testing using a sample of your blood or saliva (spit). If you have this changed gene, but do not have ARPKD, you are a carrier.

What other health problems can ARPKD cause?

ARPKD may cause any of these other health problems:

• Kidney failure before adulthood
• Liver damage that gets worse over time
• High blood pressure
• UTIs (urinary tract infections)
• Death in babies with very severe ARPKD–some babies may die within days after birth or within their first month. Most babies who live past the first month are alive at age 10. Learn more about what to expect if your child has ARPKD. 

How do doctors care for ARPKD?

There is no cure for ARPKD. Doctors can recommend strategies to help manage the symptoms and health problems that ARPKD causes. Management strategies may include:

• Dialysis (usually peritoneal dialysis, but some children have hemodialysis)
• Kidney transplant 
• Liver transplant
• Growth hormones
• Medicine to lower blood pressure 
• Antibiotics to prevent infections

You can also ask your doctor if there are any clinical trials studying treatments for ARPKD that you or your child could take part in.

How does PKD affect mental health?

Living with PKD can take a toll on your mental and emotional health. Depression, anxiety and other mental health issues are common in people with kidney disease. If your kidney damage gets worse, you may face more stressors. For example, if you are on dialysis, stressors may include:

• Cost of dialysis
• Time needed for dialysis
• Feeling like a burden to others
• Changes in your job
• Limits on what you can eat
• Fear of pain

The good news is that you are not alone. There are people and resources to help you cope in healthy ways. For example, social workers can teach you ways to manage challenges in your life and connect you with resources. 

Learn more about mental health and kidney disease and where to go for support.

Where can I learn more about PKD?

Download our guide for next steps, Living Well With ADPKD.

The PKD Foundation has information about PKD and support for people with PKD and their loved ones. You can also use the Find a Clinic tool to find a clinic or nephrologist that specializes in caring for people with PKD. Visit the website www.PKDcure.org or call 800-753-2873.