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Medullary Cystic Disease


Overview, Causes, & Risk Factors

Medullary cystic disease (MCD) is an inherited condition that affects the kidneys. In this condition, multiple small fluid-filled sacs, called cysts, form inside the kidneys.

What is going on in the body?

In medullary cystic disease, small cysts form in a part of the kidney called the medulla. Though MCD is inherited, the exact cause is not known. A problem of the tissue deep inside the kidneys is suspected. The end results of MCD include:

  • inflammation in the kidney, eventually leading to scarring
  • impairment in the ability of the kidneys to secrete and absorb salts
  • impaired ability of the kidneys to concentrate and dilute urine
  • There are different types of MCD. Each usually leads to kidney failure. The age at which kidney failure occurs depends partly on the type of MCD. Abnormalities in other areas of the body, such as vision changes, may also occur with some types of MCD. Most people with MCD either die from the disease or need permanent dialysis or a kidney transplant. Dialysis is a procedure to filter the blood when the kidneys aren't working.

    What are the causes and risks of the disease?

    Medullary cystic disease is inherited in different ways depending on the type of MCD. A child may need to inherit only one abnormal gene from one parent or one abnormal gene from each parent.


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