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Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited genetic disorder involving the development of multiple cysts in the kidneys. It affects more than 12 million people worldwide, or 1 in 500 people, according to the Polycystic Kidney Disease Foundation. The related autosomal recessive polycystic kidney disease, which usually causes kidney failure during childhood, is rare.

  1. Cysts

    • ADPKD causes cysts that can dramatically enlarge the kidneys. A kidney with these cysts can weigh up to 30 pounds, according to the U.S. National Institutes of Health (NIH).

    Early Symptoms

    • Although people are born with the disorder, symptoms usually begin between the ages of 30 and 40. The most frequent early symptom is mild to severe back and side pain, which may be intermittent or persistent.

    Additional Effects

    • The patient also may experience headaches, blood in the urine and frequent urinary tract infections. High blood pressure is likely and usually develops by age 30. Liver and pancreatic cysts, kidney stones, brain aneurysms and abnormal heart valves also can occur.

    Medication

    • Medication is the first line of treatment. Pain relievers that do not affect the kidneys can help, and antibiotics are prescribed for urinary tract infections. The patient may need blood pressure medication as well.

    Kidney Damage

    • The cysts replace much of the normal structure of the kidneys, leading to a progressive decrease in kidney function. About half the people with the disease eventually experience kidney failure and need dialysis or a kidney transplant, according to the NIH.

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