Polycystic Kidney Disease (PKD)

What is polycystic kidney disease (PKD) ?

Polycystic kidney disease is a disease in which many small fluid-filled sacs (cysts) grow in the kidneys. If too many cyst grow, they will damage the healthy kidney tissue, which affects how the kidneys work. This may lead to kidney failure.

People with PKD may have cysts in their liver, pancreas, spleen, ovaries, and large bowel as well. Cysts in these organs usually do not cause serious problems.

Polycystic kidney disease is an inherited disease that affects the kidneys. Sacs of fluid (called cysts) grow in the kidneys. If too many cysts grow or if they get too big, the kidneys become damaged. The cysts may also cause pain or may get infected.

This condition is long-term (chronic), genetic (inherited), and present at birth (congenital). It can can also vary in severity. In mild cases, the kidneys continue to work well. However, severe cases can cause high blood pressure (hypertension), heart or blood vessel disease, and loss of kidney function.

PKD is the most common inherited disease in the United States. Children of parents who have PKD have a 50% chance of getting the disease.

How will PKD affect me?

For many people, PKD is mild and causes only minor problems. PKD is more severe for some people and can cause kidney failure. About 60% of people who have PKD also have high blood pressure, which can be treated with medicine.

About 50% of patients who have PKD have kidney failure by age 60. Dialysis (blood filtering) and kidney transplants are both effective treatments for kidney failure.

Symptoms

What are the symptoms of PKD?

The most common symptom of PKD is high blood pressure. Other symptoms are:

PKD is often diagnosed when a person begins to have symptoms, but not all patients will have all of these symptoms.

  • Pain in the back and side
  • Blood in the urine
  • Frequent kidney infections
  • High blood pressure (hypertension).
  • Not having enough healthy red blood cells to carry enough oxygen to your tissues (anemia). Symptoms of anemia may include pale or gray skin, weakness, irritability, and tiredness (fatigue).
  • Pain in the middle and the side of the back below your ribs (flank pain).
  • Bloody urine (hematuria).
  • Kidney failure. Symptoms may include being tired, not having an appetite, having swollen hands and feet, urinating less than usual, vomiting, and having muscle cramps.
  • Kidney stones. Symptoms may include bloody urine, pain on the side or back, nausea, vomiting, chills, and fever.
  • Increased urination at night.
  • Liver disease and liver cysts. Symptoms may include yellowing of the skin, abdominal pain, fever, vomiting, and swelling of the abdomen.
  • Urinary tract infections (UTIs). Symptoms may include fever, urine that smells bad, need to urinate more frequently, pain or burning while urinating, and urine that is cloudy, pink, or red.
  • Heart valve abnormalities, such as mitral valve prolapse (MVP).
  • Cerebral aneurysms. A cerebral aneurysm is a bulge in a blood vessel in the brain.

Causes

The condition is passed down from parents (hereditary). Genetic changes cause cysts to develop and damage healthy organs.

Who is at risk for PKD?

PKD is generally worse in men, African Americans and people who have sickle cell disease. There is also a childhood form of PKD, which is usually more severe than the type that occurs in adults.

Diagnosis

How is PKD diagnosed?

This condition is diagnosed based on your symptoms and medical history as well as a physical exam. Tests may also be done, including:

  • Ultrasound.
  • CT scan.
  • MRI.
  • Genetic tests.

PKD is often diagnosed when a person begins to have the symptoms of PKD  , but not all people who have PKD will have all of these symptoms.

If you have symptoms of PKD or if you are at risk for the disease, your doctor may want you to have an ultrasound exam. An ultrasound exam uses sound waves to create a picture of your organs and can detect cysts on the kidneys. Your doctor may also order a CT (computerized tomography) scan to look for cysts in the kidney.

Can PKD be diagnosed in unborn babies?

Yes. PKD can be diagnosed in unborn babies using a test called amniocentesis. During this test, a very small amount of the amniotic fluid is taken out of the womb. The fluid is then tested. Another test, called chorionic villus sampling, involves testing a very small piece of the placenta. If you have PKD and you’re pregnant or planning on becoming pregnant, talk with your doctor about these procedures.

Who should be checked for PKD?

If one of your parents has PKD, you should consider having an ultrasound exam of your kidneys. If you have PKD and you also have a relative who has had a brain aneurysm, your doctor may suggest that you have a CT or MRI (magnetic resonance imaging) of your brain to check for an aneurysm. (MRI uses a magnetic field and radio waves to produce a picture of your brain.) If you are at high risk of an aneurysm, your doctor may suggest that you have CT or MRI of the brain every 5 years to detect an aneurysm before it causes problems.

Treatment

Is there treatment for PKD?

No treatment is available for the cysts caused by PKD. If the cysts are causing symptoms, these symptoms can be treated so you will be more comfortable.

There is no cure for this condition. Treatment focuses on managing symptoms, which may include:

  • Draining cysts. This may be needed if the cysts are large and are putting pressure on other organs, or damaging the kidney tissue. This may require surgery.
  • Medicine to treat hypertension. This can help slow down further damage to the kidneys.
  • Treating any bladder or kidney infections. Treatment may include using antibiotic medicines.
  • Making lifestyle changes, such as:
    • Reducing salt (sodium) intake.
    • Stopping smoking.
    • Avoiding caffeine.
    • Exercising regularly.
    • Reducing stress.
    • Drinking plenty of water.

You may be referred to a health care provider who specializes in kidney disease (nephrologist).

If kidney failure occurs, dialysis or kidney transplant may be needed.

  • Dialysis is a treatment that removes excess water and waste from the blood.
  • Kidney transplant is when a healthy kidney from a donor is placed into your body to replace the diseased kidney.

Complications

Can other organs be hurt by PKD?

People who have PKD may also have cysts in the liver, but these cysts seldom cause problems. Other organs that may be affected include the brain, intestines, pancreas, ovaries and spleen. PKD can cause problems with heart valves in some people. When PKD affects the brain, it can cause an aneurysm (a bulging blood vessel that can rupture).

Questions

  • What treatment is best for my symptoms?
  • How can I know if my baby has PKD?
  • I have PKD. Is it certain that my children will have it?
  • If my symptoms get worse, when should I call my doctor?
  • What kinds of tests do I need to diagnose PKD?
  • Will my PKD affect any of my other organs.
  • Are there any medications that I should take?
  • What is the best way to treat my high blood pressure?
  • What side effects will I experience from my medications?
  • What kinds of complications can I expect?

Follow these instructions at home:

Lifestyle

  • Follow a healthy diet as told by your health care provider. You may need to limit sodium and avoid caffeine.
  • Drink enough fluid to keep your urine clear or pale yellow.
  • Try to reduce stress in your life, such as with meditation or relaxing hobbies.
  • Exercise often as told by your health care provider.
  • Do not use any products that contain nicotine or tobacco, such as cigarettes and e-cigarettes. If you need help quitting, ask your health care provider.

General instructions

  • Take over-the-counter and prescription medicines only as told by your health care provider.
  • If you were prescribed an antibiotic medicine, take it as told by your health care provider. Do not stop taking the antibiotic even if you start to feel better.
  • Work with your health care provider to manage your blood pressure and avoid hypertension.
  • Talk with your health care provider about genetic screening, if you have a family member with this condition.
  • Keep all follow-up visits as told by your health care provider. This is important. Your kidney function will need to be checked regularly.

Contact a health care provider if:

  • You have flank pain.
  • You have blood in your urine.
  • Your hands and feet are swollen.

Get help right away if:

  • You have shortness of breath or trouble breathing.
  • You have a sudden, severe headache with no known cause. This may include a stiff neck.
  • You have sudden nausea or vomiting with a severe headache.
  • You have a seizure.
  • You have any symptoms of stroke. “BE FAST” is an easy way to remember the main warning signs of stroke:
    • B – Balance. Signs are dizziness, sudden trouble walking, or loss of balance.
    • E – Eye. Signs are trouble seeing or a sudden change in vision.
    • F – Face. Signs are sudden weakness or numbness of the face, or the face or eyelid drooping on one side.
    • A – Arm. Signs are weakness or numbness in an arm. This happens suddenly and usually on one side of the body.
    • S – Speech. Signs are trouble speaking, slurred speech, or trouble understanding what people say.
    • T – Time. Time to call emergency services. Write down what time symptoms started.

These symptoms may represent a serious problem that is an emergency. Do not wait to see if the symptoms will go away. Get medical help right away. Call your local emergency services (911 in the U.S.). Do not drive yourself to the hospital.

Summary

  • Polycystic kidney disease (PDK) is a condition in which many small fluid-filled sacs (cysts) grow in the kidneys.
  • Diagnosis of polycystic kidney disease may include an ultrasound, CT scan, MRI, and genetic tests.
  • Treatment focuses on managing symptoms, which may include medicines, diet, and exercise.

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