Polycystic kidney disease
Cysts - kidneys; Kidney - polycystic; Autosomal dominant polycystic kidney disease; ADPKDPolycystic kidney disease (PKD) is a kidney disorder passed down through families. In this disease, many cysts form in the kidneys, causing them to become enlarged.
Causes
PKD is passed down through families (inherited). The two inherited forms of PKD are autosomal dominant and autosomal recessive.
Autosomal dominant
Autosomal dominant is one of many ways that a genetic trait or disorder can be passed down through families. In an autosomal dominant disease, if you...
Autosomal recessive
Autosomal recessive is one of several ways that a genetic trait, disorder, or disease can be passed down through families. An autosomal recessive dis...
People with PKD have many clusters of cysts in the kidneys. What exactly triggers the cysts to form is unknown.
PKD is associated with the following conditions:
- Aortic aneurysms
- Brain aneurysms
Aneurysms
An aneurysm is an abnormal widening or ballooning of a part of an artery due to weakness in the wall of the blood vessel.
Read Article Now Book Mark Article - Cysts in the liver, pancreas, and testes
Testes
The testes are 2 egg-shaped male reproductive organs located in the scrotum. They produce sperm and the male hormone, testosterone.
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Diverticula of the colon
Diverticula
Diverticula are small, bulging sacs or pouches that form on the inner wall of the intestine. Diverticulitis occurs when these pouches become inflame...
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As many as half of people with PKD have cysts in the liver.
Symptoms
Symptoms of PKD may include any of the following:
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Abdominal pain or tenderness
Abdominal pain
Abdominal pain is pain that you feel anywhere between your chest and groin. This is often referred to as the stomach region or belly.
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Blood in the urine
Blood in the urine
Blood in your urine is called hematuria. The amount may be very small and only detected with urine tests or under a microscope. In other cases, the...
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Excessive urination at night (nocturia)
Excessive urination at night
Normally, the amount of urine your body produces decreases at night. This allows most people to sleep 6 to 8 hours without having to urinate. Some p...
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Flank pain on one or both sides
Flank pain
Flank pain is pain in one side of the body between the upper belly area (abdomen) and the back.
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Drowsiness
Drowsiness
Drowsiness refers to feeling more sleepy than normal during the day. People who are drowsy may fall asleep when they do not want to or at times whic...
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Nail abnormalities
Nail abnormalities
Nail abnormalities are problems with the color, shape, texture, or thickness of the fingernails or toenails.
Exams and Tests
An examination may show:
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Abdominal tenderness over the liver
Abdominal tenderness
Abdominal pain is pain that you feel anywhere between your chest and groin. This is often referred to as the stomach region or belly.
Read Article Now Book Mark Article - Enlarged kidneys
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Enlarged liver
Enlarged liver
Enlarged liver refers to swelling of the liver beyond its normal size. Hepatomegaly is another word to describe this problem. If both the liver and ...
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Heart murmurs or other signs of aortic insufficiency or mitral insufficiency
Heart murmurs
A heart murmur is a blowing, whooshing, or rasping sound heard during a heartbeat. The sound is caused by turbulent (rough) blood flow through the h...
Read Article Now Book Mark ArticleAortic insufficiency
Aortic regurgitation is a heart valve disease in which the aortic valve does not close tightly. This allows blood to flow from the aorta (the larges...
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- Growths in the abdomen
Tests that may be done include:
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Cerebral angiography
Cerebral angiography
Cerebral angiography is a procedure that uses a special dye (contrast material) and x-rays to see how blood flows through the brain.
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Complete blood count (CBC) to check for anemia
Complete blood count
A complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...
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Urinalysis
Urinalysis
Urinalysis is the physical, chemical, and microscopic examination of urine. It involves a number of tests to detect and measure various compounds th...
People with a personal or family history of PKD who have headaches should be tested to determine if cerebral aneurysms are the cause.
PKD and cysts on the liver or other organs may be found using the following tests:
Cysts
A cyst is a closed pocket or pouch of tissue. It can be filled with air, fluid, pus, or other material.
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Abdominal CT scan
Abdominal CT scan
An abdominal CT scan is an imaging method. This test uses x-rays to create cross-sectional pictures of the belly area. CT stands for computed tomog...
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Abdominal MRI scan
Abdominal MRI
An abdominal magnetic resonance imaging scan is an imaging test that uses powerful magnets and radio waves. The waves create pictures of the inside ...
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Abdominal ultrasound
Abdominal ultrasound
Abdominal ultrasound is a type of imaging test. It is used to look at organs in the abdomen, including the liver, gallbladder, spleen, pancreas, and...
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Intravenous pyelogram (IVP)
Intravenous pyelogram
An intravenous pyelogram (IVP) is a special x-ray exam of the kidneys, bladder, and ureters (the tubes that carry urine from the kidneys to the bladd...
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If several members of your family have PKD, genetic tests can be done to determine whether you carry the PKD gene.
Treatment
The goal of treatment is to control symptoms and prevent complications. Treatment may include:
- Blood pressure medicines
- Diuretics (water pills)
- Low-salt diet
Any urinary tract infection should be treated quickly with antibiotics.
Cysts that are painful, infected, bleeding, or causing a blockage may need to be drained. There are usually too many cysts to make it practical to remove each cyst.
Surgery to remove one or both kidneys may be needed. Treatments for end-stage kidney disease may include dialysis or a kidney transplant.
End-stage kidney disease
End-stage kidney disease (ESKD) is the last stage of long-term (chronic) kidney disease. This is when your kidneys can no longer support your body's...
Dialysis
Dialysis treats end-stage kidney disease also called kidney failure. It removes waste from your blood when your kidneys can no longer do their job. ...
Kidney transplant
A kidney transplant is surgery to place a healthy kidney into a person with kidney failure.
Support Groups
More information and support for people with polycystic kidney disease and their families can be found at a kidney disease support group.
Kidney disease support group
The following organizations are good resources for information on kidney disease:American Geriatrics Society's Health in Aging Foundation -- www. hea...
Outlook (Prognosis)
The disease gets worse slowly. Eventually, it may lead to end-stage kidney failure. It is also associated with liver disease, including infection of liver cysts.
Kidney failure
Acute kidney failure is the rapid (less than 2 days) loss of your kidneys' ability to remove waste and help balance fluids and electrolytes in your b...
Liver disease
The term "liver disease" applies to many conditions that stop the liver from working or prevent it from functioning well. Abdominal pain or swelling...
Treatment may relieve symptoms for many years.
People with PKD who don't have other diseases may be good candidates for a kidney transplant.
Possible Complications
Health problems that may result from PKD include:
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Anemia
Anemia
Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...
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- Long-term (chronic) kidney disease
- End-stage kidney disease
- High blood pressure
- Infection of liver cysts
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Kidney stones
Kidney stones
A kidney stone is a solid mass made up of tiny crystals. One or more stones can be in the kidney or ureter at the same time.
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- Repeated urinary tract infections
Urinary tract infections
A urinary tract infection, or UTI, is an infection of the urinary tract. The infection can occur at different points in the urinary tract, including...
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When to Contact a Medical Professional
Contact your health care provider if:
- You have symptoms of PKD
- You have a family history of PKD or related disorders and you are planning to have children (you may want to have genetic counseling)
Prevention
Currently, no treatment can prevent the cysts from forming or enlarging.
References
Arnaout MA. Cystic kidney diseases. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 112.
Torres VE, Harris PC. Cystic diseases of the kidney. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 45.
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Kidney and liver cysts - CT scan - illustration
This abdominal CT scan shows cysts in the liver and kidneys (polycystic disease). The liver is the large organ on the left side of the screen. The dark spots in the liver are cysts.
Kidney and liver cysts - CT scan
illustration
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Liver and spleen cysts - CT scan - illustration
This abdominal CT scan shows multiple cysts in the liver and spleen. Note the dark circular cyst in the liver (left side of screen) and the large, irregular, circular cyst in the spleen (bottom, right side of screen).
Liver and spleen cysts - CT scan
illustration
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Kidney and liver cysts - CT scan - illustration
This abdominal CT scan shows cysts in the liver and kidneys (polycystic disease). The liver is the large organ on the left side of the screen. The dark spots in the liver are cysts.
Kidney and liver cysts - CT scan
illustration
-
Liver and spleen cysts - CT scan - illustration
This abdominal CT scan shows multiple cysts in the liver and spleen. Note the dark circular cyst in the liver (left side of screen) and the large, irregular, circular cyst in the spleen (bottom, right side of screen).
Liver and spleen cysts - CT scan
illustration
Review Date: 8/28/2023
Reviewed By: Walead Latif, MD, Nephrologist and Clinical Associate Professor, Rutgers Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.