Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large. Having many cysts or large cysts can damage your kidneys.

Polycystic kidney disease also can cause cysts to develop in your liver and elsewhere in your body. The disease can cause serious complications, including high blood pressure and kidney failure.

PKD varies greatly in its severity, and some complications are preventable. Lifestyle changes and treatments might help reduce damage to your kidneys from complications.

Symptoms

Polycystic kidney disease symptoms can include:

• High blood pressure
• Back or side pain
• Headache
• A feeling of fullness in your abdomen
• Increased size of your abdomen due to enlarged kidneys
• Blood in your urine
• Kidney stones
• Kidney failure
• • Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of ADPKD often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but children can develop the disorder.

    Only one parent needs to have the disease for it to pass to the children. If one parent has ADPKD, each child has a 50 percent chance of getting the disease. This form accounts for about 90 percent of cases of polycystic kidney disease.

  • Autosomal recessive polycystic kidney disease (ARPKD). This type is far less common than is ADPKD. The signs and symptoms often appear shortly after birth. Sometimes, symptoms don’t appear until later in childhood or during adolescence.

    Both parents must have abnormal genes to pass on this form of the disease. If both parents carry a gene for this disorder, each child has a 25 percent chance of getting the disease.

    Urinary tract or kidney infections

    Causes

    Abnormal genes cause polycystic kidney disease, which means that in most cases, the disease runs in families. Rarely, a genetic mutation occurs on its own (spontaneous), so that neither parent has a copy of the mutated gene.

    The two main types of polycystic kidney disease, caused by different genetic flaws, are:

  Complications

  Complications associated with polycystic kidney disease include:

  • High blood pressure. Elevated blood pressure is a common complication of polycystic kidney disease. Untreated, high blood pressure can cause further damage to your kidneys and increase your risk of heart disease and stroke.
  • Loss of kidney function. Progressive loss of kidney function is one of the most serious complications of polycystic kidney disease. Nearly half of those with the disease have kidney failure by age 60.

    PKD can interfere with the ability of your kidneys to keep wastes from building to toxic levels, a condition called uremia. As the disease worsens, end-stage kidney (renal) failure may result, necessitating ongoing kidney dialysis or a transplant to prolong your life.

  • Pregnancy complications. Pregnancy is successful for most women with polycystic kidney disease. In some cases, however, women may develop a life-threatening disorder called preeclampsia. Those most at risk have high blood pressure before they become pregnant.
  • Growth of cysts in the liver. The likelihood of developing liver cysts for someone with polycystic kidney disease increases with age. While both men and women develop cysts, women often develop larger cysts. Female hormones might contribute to cyst development.
  • Development of an aneurysm in the brain. A balloonlike bulge in a blood vessel (aneurysm) in your brain can cause bleeding (hemorrhage) if it ruptures. People with polycystic kidney disease have a higher risk of aneurysm. People with a family history of aneurysm seem to be at highest risk.
  • Heart valve abnormalities. As many as 1 in 4 adults with polycystic kidney disease develops mitral valve prolapse. When this happens, the valve no longer closes properly, which allows blood to leak backward.
  • Colon problems. Weaknesses and pouches or sacs in the wall of the colon (diverticulosis) may develop in people with polycystic kidney disease.
  • Chronic pain. Pain is a common symptom for people with polycystic kidney disease. It often occurs in your side or back. The pain can also be associated with a urinary tract infection, a kidney stone or a malignancy.

  Prevention

  If you have polycystic kidney disease and you’re considering having children, a genetic counselor can help you assess your risk of passing the disease to your offspring.

  Keeping your kidneys as healthy as possible may help prevent some of the complications of this disease. One of the most important ways you can protect your kidneys is by managing your blood pressure.

  Here are some tips for keeping your blood pressure in check:

  • Take the blood pressure medications prescribed by your doctor as directed.
  • Eat a low-salt diet containing plenty of fruits, vegetables and whole grains.
  • Maintain a healthy weight. Ask your doctor what the right weight is for you.
  • If you smoke, quit.
  • Exercise regularly. Aim for at least 30 minutes of moderate physical activity most days of the week.
  • Limit alcohol use.
    

    Diagnosis

    For polycystic kidney disease, certain tests can detect the size and number of kidney cysts you have and evaluate the amount of healthy kidney tissue, including:

    • Ultrasound. During an ultrasound, a wandlike device called a transducer is placed on your body. It emits sound waves that are reflected back to the transducer — like sonar. A computer translates the reflected sound waves into images of your kidneys.
    • CT scan. As you lie on a movable table, you’re guided into a big, doughnut-shaped device that projects thin X-ray beams through your body. Your doctor is able to see cross-sectional images of your kidneys.
    • MRI scan. As you lie inside a large cylinder, magnetic fields and radio waves generate cross-sectional views of your kidneys.

    Treatment

    Treating polycystic kidney disease involves dealing with the following signs, symptoms and complications in their early stages:

    • High blood pressure. Controlling high blood pressure can delay the progression of the disease and slow further kidney damage. Combining a low-sodium, low-fat diet that’s moderate in protein and calorie content with not smoking, increasing exercise and reducing stress may help control high blood pressure.

      However, medications are usually needed to control high blood pressure. Medications called angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs) are often used to control high blood pressure.

    • Pain. You might be able to control the pain of polycystic kidney disease with over-the-counter medications containing acetaminophen. For some people, however, the pain is more severe and constant. In rare cases, your doctor might recommend surgery to remove cysts if they’re large enough to cause pressure and pain.
    • Bladder or kidney infections. Prompt treatment of infections with antibiotics is necessary to prevent kidney damage.
    • Blood in the urine. You’ll need to drink lots of fluids, preferably plain water, as soon as you notice blood in your urine to dilute the urine. Dilution might help prevent obstructive clots from forming in your urinary tract.
    • Kidney failure. If your kidneys lose their ability to remove waste products and extra fluids from your blood, you’ll eventually need either dialysis or a kidney transplant.
    • Aneurysms. If you have polycystic kidney disease and a family history of ruptured brain (intracranial) aneurysms, your doctor may recommend regular screening for intracranial aneurysms.

    If an aneurysm is discovered, surgical clipping of the aneurysm to reduce the risk of bleeding may be an option, depending on its size. Nonsurgical treatment of small aneurysms may involve controlling high blood pressure and high blood cholesterol, as well as quitting smoking.