Autosomal Dominant Polycystic Kidney Disease

What is autosomal dominant polycystic kidney disease?

Autosomal dominant polycystic kidney disease (ADPKD) is a condition in which many cysts grow in your kidneys. Your kidneys remove wastes, and unwanted chemicals and fluids from your body. The waste products are then removed from your body by urinating. The cysts are sacs of fluid, which normally grow in or around the tiny tubes in your kidneys. The cysts may become large and damage your kidneys. When damage occurs, your kidneys may not work properly, or may stop working completely. Wastes and extra fluids may also build up in your body and cause you to become ill. Treatment for your ADPKD may decrease your symptoms and slow the progress of your disease.

What may cause autosomal dominant polycystic kidney disease?

ADPKD is most often caused by damaged genes. Genes are little pieces of information which tell your cells how to grow and what to do. Damaged genes may be passed on to you by your parents. Damage to your genes may also occur from taking certain medicines and hormones (special chemicals). Damaged genes may cause decreased blood flow to your kidneys. Decreased blood flow may cause the cysts to form in your kidneys. For a small number of people, the cause of ADPKD may be unknown.

What are the signs and symptoms of autosomal dominant polycystic kidney disease?

You may feel no symptoms during the early stages of ADPKD. Symptoms usually occur from 30 to 40 years of age, but may also occur during childhood. You may have one or more of the following:

• Abdominal mass: You may feel a large mass (lump) in your abdominal (stomach) area. This mass may be large cysts in your kidney.
  
  
• Hematuria: You may have blood in your urine. When this happens, your urine may look dark brown or red. Blood in your urine may occur when you have bleeding cysts or a kidney stone.
  
  
• High blood pressure: High blood pressure usually occurs with ADPKD between the ages of 20 to 30. High blood pressure may make your heart work harder and cause it to become larger than it should. High blood pressure may also cause you to have headaches, a stroke, or a heart attack. High blood pressure also decreases the blood flow to your kidneys.
  
  
• Pain in your back and sides: With ADPKD, pain normally occurs in your back and sides. The pain may be caused by bleeding cysts, infections, or kidney stones. When your kidneys become large from many cysts, the tissue covering your kidneys may stretch. This stretching may also cause you to feel pain in your back and sides.
  
  
• Polyuria: You may urinate more than usual.

What problems may be caused by your autosomal dominant polycystic kidney disease?

• Aneurysms: Aneurysms are bulges in the walls of your blood vessels. Aneurysms may weaken your blood vessel, and it may rupture. People with ADPKD are at an increased risk of having aneurysms in their brain.
  
  
• Diverticulosis: These are small pouches that bulge into your colon. You may have pain in your abdomen or changes in your bowel movements with diverticulosis.
  
  
• Cysts in other organs: Cysts may grow in your other organs such as your liver, pancreas, and thyroid gland. You may have signs and symptoms of liver problems such as yellowing of your skin and eyes. Your liver may become large and may be painful. Men may also have cysts in their reproductive tract causing them to be infertile. Cysts may also be seen in the ovaries of women and make it hard for them to become pregnant.
  
  
• Heart problems: ADPKD may increase your risk of having heart valve problems. When your heart valves are damaged, you may feel like you have pounding heartbeats. You may also have trouble breathing.
  
  
• Hyperlipidemia: This is an increase in the amount of cholesterol in your blood. Most people with ADPKD have increased cholesterol levels.
  
  
• Urinary tract problems: You may have to urinate more often or have pain while urinating. This may mean that you have a urinary tract infection (UTI) in your urine passageways. With a UTI, you may also have a fever. People with ADPKD often have an increased risk of having UTIs.

How is autosomal dominant polycystic kidney disease diagnosed?

Tell your caregiver if you have family members or relatives with ADPKD. Your caregiver may ask what symptoms you feel, when they appeared, and how bad they are. He will do a complete physical exam on you. Your caregiver may use the following as a way to diagnose ADPKD:

• ADPKD criteria:
  
  
  • If you have family members with ADPKD: You must have three or more cysts in both your kidneys to be diagnosed with ADPKD.
    
    
  • If you do not have family members with ADPKD:
    
    
    • If you are 15 years old or younger: You must have at least three or more cysts in both your kidneys.
      
      
    • If you are 16 years old or older: You must have at least five cysts in each kidney.
    .
  
  
• Tests:
  
  
  • Blood tests: You may need blood taken to give caregivers information about how your body is working. The blood may be taken from your hand, arm, or IV.
    
    
  • Urine sample: For this test you need to urinate into a small container. You will be given instructions on how to clean your genital area before you urinate. Do not touch the inside of the cup. Follow instructions on where to place the cup of urine when you are done.
  
  
• Imaging tests:
  
  
  • Renal ultrasound: This is a simple test using sound waves to look at your kidneys. Pictures of your kidneys show up on a TV-like screen. An ultrasound can show if you have a kidney stone, cysts, or other kidney problems.
    
    
  • Computed tomography scan: This is also called a CT scan. This is a special x-ray machine that uses a computer to take pictures of your kidneys. A CT scan lets your caregiver see how many cysts you have, and how big they are. He may also check other organs such as your liver and pancreas for cysts. He may also use the CT scan to check for aneurysms in your brain.
    
    
  • Magnetic resonance imaging: This test is also called an MRI. During the MRI, pictures of your kidneys are taken. Other organs such as your pancreas and liver may also be seen. It is also used to measure the size of your kidneys. An MRI is often used by caregivers to see if your disease is getting worse. Your caregiver will check the size of your cysts and see how many there are. You will need to lie still during an MRI. Never enter the MRI room with an oxygen tank, watch, or any other metal objects. This may cause serious injury.
    
    
  • Renal angiography: This is a test that uses x-rays to take pictures of the blood vessels in your kidneys. Before the x-ray, a catheter (long, thin, bendable tube) is inserted into a blood vessel in your groin. Your groin is the area where your abdomen meets your legs. Dye is put into the catheter, and x-rays are taken as the dye goes to your kidneys. The dye helps the blood vessels show up better on the x-ray pictures. Tell your caregiver if you are allergic to shellfish, as you may also be allergic to the dye used for this test.
  
  
• Genetic testing: This testing is done to see if your ADPKD is caused by damaged genes. Genetic testing may also be done if imaging tests do not show anything. You may also be tested if you are a potential kidney donor for a family member. If you are planning to donate a kidney, caregivers need to check for the damaged gene first.

How is autosomal dominant polycystic kidney disease treated?

Currently there is no cure for ADPKD. Treatments are done to help decrease your symptoms and slow the progress of your disease. You may need one or more of the following:

• Medicines:
  
  
  • Antibiotics: Antibiotics may be given to help treat infections caused by germs called bacteria. You may need this medicine if you have a UTI. These germs may also reach the cysts in your kidneys, and cause more damage. Cyst infections are hard to treat because many antibiotic medicines cannot get inside the cysts.
    
    
  • Blood pressure medicines: These medicines are used to keep your blood pressure normal. Keeping your blood pressure normal may help decrease any damage caused by ADPKD to your kidneys.
    
    
  • Cholesterol medicines: This type of medicine is given to help lower the amount of cholesterol, or fat, in your blood.
    
    
  • Pain medicines: If you have pain from your cysts growing larger, your caregiver may have you take over-the-counter pain medicines. Ask your caregiver what pain medicine is best for you. Some pain medicines may be harmful to your kidneys.
    
    
  • Sclerosing medicines: Sclerosing medicines are used if you have had the fluid drained out of your cysts. The medicines help to prevent fluid from building up again.
  
  
• Treatment options:
  
  
  • Aspiration: This procedure is done to shrink your cysts. Aspiration may also be done to improve your kidney function and delay the rate of your disease. A long, thin needle is carefully pushed through your skin to reach your kidneys. Your caregiver will use a syringe to suck out the fluid from inside your cysts. Aspiration may decrease any pain you are feeling in your back and sides. Aspiration may only relieve your symptoms for a short time, and will not cure your ADPKD.
    
    
  • Dialysis: You may need dialysis when your kidneys do not work properly, or stop working completely. Dialysis is a procedure to remove extra water, wastes, and harmful chemicals from your blood. You may need one of the following:
    
    
    • Hemodialysis: During hemodialysis, your blood is run through a special filter. The filter will remove wastes and extra fluids from your body. After a portion of your blood goes through the filter, it will be returned to your body.
      
      
    • Peritoneal dialysis: During peritoneal dialysis, a special liquid is put into your abdomen (stomach). This liquid absorbs wastes, and will be drained after a certain period of time.
    
    
  • Diet and activity: You may need to eat a special diet and do exercises as directed by your caregiver. A special diet and exercise may help keep your blood pressure at a healthy level.
    
    
  • Kidney transplantation: This is surgery to replace your damaged kidney with a healthy kidney. The healthy kidney will come from a donor (another person). Your new kidney will not normally get any cysts. Your new kidney may come from a family member, close friend, or someone you do not know. Talk to your caregiver for more information about this surgery.
    
    
  • Nephrectomy: This is surgery to remove one or both of your kidneys. A nephrectomy is done if your enlarged kidney is causing you pain. It may also be done to make space for a later kidney transplant. You will need dialysis if both of your kidneys are removed while you wait for a transplant. If only one kidney is removed, you may not need dialysis. This will depend on how well your one kidney functions.

When should I call my caregiver?

Call your caregiver if:

• You are female and know or think you are pregnant. Being pregnant and having ADPKD may cause a birth defect on your unborn child.
  
  
• You have a bitter taste in your mouth or early satiety. Early satiety is feeling full after eating less than usual.
  
  
• You have a decreased appetite for food and are unable to eat or drink.
  
  
• You have a fever.
  
  
• You have pain in your back and sides.
  
  
• You have pain when you urinate.
  
  
• You have questions or concerns about your condition, treatment, or care.

When should I seek immediate help?

Seek care immediately of call 911 if:

• You have a very bad headache or you have headaches that come and go often.
  
  
• You have blood in your urine.
  
  
• You have chest pain or trouble breathing.
  
  
• You have facial swelling or your whole body becomes swollen.
  
  
• You have pain in your abdomen.
  
  
• You have yellowing of your eyes or skin.
  
  
• You have signs of a stroke: The following signs are an emergency. Call 911 immediately if you have any of the following:
  
  
  • Weakness or numbness in your arm, leg, or face (may be on only one side of your body)
    
    
  • Confusion and problems speaking or understanding speech
    
    
  • A very bad headache that may feel like the worst headache of your life
    
    
  • Not being able to see out of one or both of your eyes
    
    
  • Feeling too dizzy to stand

Where can I find support and more information?

Accepting that you have ADPKD may be hard. You and those close to you may feel angry, scared, or sad. These feelings are normal. Talk to your caregiver, family members, and friends about your feelings. You may also want to join a support group with other people who also have ADPKD. You may contact the following:

• American Association of Kidney Patients
  3505 E. Frontage Rd, Suite 315
  Tampa , FL 33607-1796
  Phone: 1- 800 - 749-2257
  Web Address: http://aakp.org
  

• National Kidney Foundation
  30 East 33rd Street
  New York , NY 10016
  Phone: 1- 212 - 889-2210
  Phone: 1- 800 - 622-9010
  Web Address: http://www.kidney.org
  

Care Agreement

You have the right to help plan your care. Learn about your health condition and how it may be treated. Discuss treatment options with your caregivers to decide what care you want to receive. You always have the right to refuse treatment.

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The above information is an educational aid only. It is not intended as medical advice for individual conditions or treatments. Talk to your doctor, nurse or pharmacist before following any medical regimen to see if it is safe and effective for you.

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