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Autosomal Dominant Polycystic Kidney Disease

What Is Autosomal Dominant Polycystic Kidney Disease?

Autosomal dominant polycystic kidney disease (ADPKD) causes a lot of fluid-filled sacs, called cysts, to grow in your kidneys. The cysts keep your kidneys from working like they should. That can cause health problems like high blood pressure, infections, and kidney stones. It can also cause kidney failure, although that doesn't happen to everyone.

You can have ADPKD and not know it for many years. It’s often called “adult PKD,” because the symptoms don't usually appear until people reach ages 30 to 40. But over time, ADPKD can start to damage your kidneys.

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You can slow the damage and prevent some of the complications by making healthy habits part of your life. Depending on the type of ADPKD you have, you can lead an active life for many years by managing your symptoms and working with your doctor. There’s not a cure, but scientists are doing research to look for new treatments.

Causes

ADPKD is caused by a problem with one of two genes in your DNA -- PKD1 or PKD2. These genes make proteins in kidney cells that let them know when to grow. A problem with either gene causes kidney cells to grow out of control and form cysts.

Many genetic diseases happen when a person gets broken genes from both parents, but with ADPKD you need only one faulty gene to have the disease. That's why this kind of PKD is called “autosomal dominant,” meaning only one parent has to pass on a broken gene.

If one parent has the disease, each child has a 50-50 chance of getting it.

You can get ADPKD even if neither of your parents had the disease. This happens when one of your PKD genes gets a defect on its own. But it’s rare for someone to get it this way.

Symptoms

Not everyone with ADPKD will have symptoms. Those who do may not notice anything for many years. Most people with the disease have high blood pressure. Urinary tract infections and kidney stones are also common.

Other signs that you have ADPKD include:

  • Pain in your back or sides, often because of a burst cyst, a kidney stone, or a urinary tract infection
  • Blood in your pee
  • Swelling in your belly as the cysts grow

Over time, cysts may grow big enough to damage your kidneys, and for some people, can cause them to fail. If that happens, you may have:

  • Fatigue
  • The need to pee often
  • Irregular periods
  • Nausea
  • Shortness of breath
  • Swollen ankles, hands, and feet
  • Erectile dysfunction

Getting a Diagnosis

If your doctor thinks there’s a problem with your kidneys, she may want you see a nephrologist, a specialist who treats kidney diseases. He’ll ask you questions, like:

  • What kind of symptoms are you having? When did they start?
  • How often do you feel that way?
  • Do you know your blood pressure?
  • Have you been having any pain? If so, where?
  • Have you ever had kidney stones? How often do you get them?
  • Has anyone in your family been diagnosed with kidney disease?
  • Have you ever had a genetic test?

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