Polycystic Kidney Disease

Overview

What is polycystic kidney disease?

Polycystic kidney disease (PKD) causes cysts (fluid-filled growths) to develop in the kidneys. PKD is a genetic disorder, meaning you have to have a mutated (changed) gene to get the disorder.

PKD isn’t the same as simple kidney cysts, which are usually harmless. PKD is a serious type of chronic kidney disease. The cysts can enlarge the kidneys and prevent them from filtering waste out of the blood. PKD can lead to kidney failure.

Are there different types of polycystic kidney disease?

There are two types of polycystic kidney disease:

  • Autosomal dominant polycystic kidney disease (ADPKD): ADPKD is the most common form of PKD. It’s usually diagnosed in adulthood, between the ages of 30 and 50. ADPKD is usually diagnosed in adulthood, between the ages of 30 and 50, but it may occur in early childhood or adolescence.
  • Autosomal recessive polycystic kidney disease (ARPKD): ARPKD is a rare form of PKD, also called infantile PKD. It causes abnormal kidney development in the womb or soon after birth.

How common is polycystic kidney disease?

About 500,000 people in the U.S. have PKD. Approximately 2% of all kidney failure cases are the result of PKD.

Symptoms and Causes

What causes polycystic kidney disease?

Genetic mutations cause polycystic kidney disease. In most cases, parents pass the disorder to their children. So, you inherit PKD. But sometimes genes mutate or change at random. People of all ages, races and ethnicities can have PKD. It occurs equally in women and men.

What are the symptoms of autosomal dominant polycystic kidney disease (ADPKD)?

Symptoms of ADPKD include:

What are the signs of autosomal recessive polycystic kidney disease (ARPKD)?

Signs that a fetus (unborn baby) or newborn may have ADPKD include:

  • Enlarged kidneys.
  • Growth failure (small size or low birthweight).
  • Low amniotic fluid level, which might mean a baby isn’t producing enough urine in the womb.

Will signs and symptoms of polycystic kidney disease always show up right away?

No. This disease is often clinically silent, with approximately one-half of cases being diagnosed during the person's lifetime.

What are the complications of polycystic kidney disease?

PKD can cause serious health complications for adults and babies.

Adults may develop:

Babies may have:

  • Breathing problems due to underdeveloped lungs.
  • High blood pressure.
  • Kidney failure.
  • Liver problems.

Diagnosis and Tests

How is polycystic kidney disease diagnosed?

A nephrologist (healthcare provider specializing in kidney disorders) diagnoses PKD. They may order the following imaging exams to check your kidneys:

A healthcare provider may also recommend genetic testing. A blood or saliva test can check for the mutated genes that cause PKD.

Management and Treatment

What is the treatment for polycystic kidney disease?

The most common treatments for PKD include:

  • Blood pressure management: Your provider helps you control your blood pressure with medicine, diet and exercise. Keeping your blood pressure within a safe range reduces your risk of heart disease and stroke.
  • Breathing support: Infants with underdeveloped lungs and breathing problems may need mechanical ventilation.
  • Dialysis: If you have kidney failure, you may need dialysis (a procedure to clean the blood). Hemodialysis uses a machine to filter blood outside the body. Peritoneal dialysis uses the lining of your belly and a special fluid to filter blood.
  • Growth therapy: Underweight or underdeveloped infants may need help growing. A healthcare provider may recommend nutritional therapy or human growth hormone.
  • Kidney transplant: You may need a kidney transplant if ADPKD progresses to end-stage renal failure. A transplant is surgery to replace a failing kidney with a donor kidney.
  • Pain management: Medicine can control pain caused by infections, kidney stones or burst cysts. Your healthcare provider should approve any pain medicines you take. Some medicines can make kidney damage worse.

Prevention

Is polycystic kidney disease preventable?

Polycystic kidney disease isn’t preventable. But you may be able to slow the disease or prevent kidney failure by practicing a healthy lifestyle.

Outlook / Prognosis

What is the outlook for someone with PKD?

People with ADPKD that’s managed can lead full lives. About half of people with ADKPD will need dialysis or a kidney transplant due to kidney failure by age 70.

The outlook for children with ARPKD isn’t as positive. About one-third of all infants born with ARPKD don’t survive. Babies who do survive will likely need medical treatment the rest of their lives.

Living With

What can I do to make living with PKD easier?

Stay healthy and prevent complications by:

  • Eating a healthy diet.
  • Exercising.
  • Losing weight.
  • Managing blood pressure.
  • Quitting smoking.
  • Reducing stress.

When should I call the doctor about PKD?

Contact a healthcare provider right away if you have PKD and are:

  • Confused.
  • Developing swollen legs, ankles or feet.
  • Having chest pain.
  • Short of breath.
  • Unable to urinate.

A note from Cleveland Clinic

Polycystic kidney disease (PKD) is genetic and causes cysts to form in the kidneys. The cysts may enlarge the kidneys and disrupt kidney function. Most people with PKD are adults. But in rare cases, babies can have a dangerous form of PKD. Treatment reduces symptoms and helps the kidneys work better. Most people with PKD will need dialysis or a kidney transplant.

Last reviewed by a Cleveland Clinic medical professional on 02/03/2021.

References

  • American Kidney Fund. Polycystic Kidney Disease. (https://www.kidneyfund.org/kidney-disease/other-kidney-conditions/polycystic-kidney-disease.html) Accessed 2/16/2021.
  • American Kidney Fund. Acute Kidney Injury. (https://www.kidneyfund.org/kidney-disease/kidney-problems/acute-kidney-injury.html) Accessed 2/16/2021.
  • Merck Manual Consumer Version. Polycystic Kidney Disease (PKD). (https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/cystic-kidney-disorders/polycystic-kidney-diseasepkd) Accessed 2/16/2021.
  • National Institute of Diabetes and Digestive and Kidney Diseases. Polycystic Kidney Disease (PKD). (https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/) Accessed 2/16/2021.

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