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Medullary Cystic Disease

Alternate Names

  • medullary cystic renal disease
  • nephronophthisis complex
  • Kidneys and adrenal glands

Definition

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.
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
Each of several different types of MCD 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 fail to work.

Risks

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.

Prevention

What can be done to prevent the disease?

There are no known ways to prevent medullary cystic disease once a person has been born. Genetic counseling can be helpful to couples with a family history of this condition.

Diagnosed

How is the disease diagnosed?

Diagnosis of medullary cystic disease begins with a history and physical exam. Kidney function tests and urine cultures can detect infection or kidney damage. An ultrasound or CT scan can assess the kidney size or find kidney cysts.
In difficult cases, a kidney biopsy may be needed to make the diagnosis. This procedure is performed by inserting a special needle through the skin and into the kidney. The needle is used to remove a tiny piece of the kidney, which can be sent to the lab for evaluation and testing.

Long Term Effects

What are the long-term effects of the disease?

Kidney failure is the most likely long-term effect of medullary cystic disease. Dialysis or kidney transplantation is needed to treat kidney failure in order for the person to survive. Kidney failure can affect or damage almost any organ or part of the body. For instance, those with kidney failure may develop heart damage, infections, nerve damage, and weak bones.

Other Risks

What are the risks to others?

Medullary cystic disease is not contagious. However, affected persons may pass MCD on to their children in some cases.

Treatments

What are the treatments for the disease?

Because medullary cystic disease cannot be reversed, treatment is directed at the complications. Treatment with fluids or salts may be needed to correct dehydration or salt imbalances. Blood transfusions may be needed to treat anemia.
Surgery to remove a kidney may be needed if chronic abdominal pain occurs. Kidney infections are common and are treated with antibiotics. Other treatment will depend on any underlying conditions that result from MCD or kidney failure, such as visual impairments, high blood pressure, or infections.

Side Effects

What are the side effects of the treatments?

All medications and surgeries have possible side effects. For instance, medication for high blood pressure may cause fatigue, allergic reactions, or erectile dysfunction. Antibiotics can cause stomach upset and allergic reactions.
Surgery can be complicated by bleeding, infection, or a reaction to the anesthetic. Dialysis has many side effects, including infection, salt imbalances, and weakness.

After Treatment

What happens after treatment for the disease?

Treatment usually lasts for life, as medullary cystic disease cannot be cured and usually gets worse over time. Once kidney failure occurs, dialysis is usually needed 3 times a week. If a kidney transplant is performed, the person will need lifelong treatment with medications to prevent rejection of the transplanted kidney.

Monitor

How is the disease monitored?

The person's symptoms, and kidney function tests, are used to monitor the degree of kidney failure. Any new or worsening symptoms should be reported to the healthcare professional. .

Sources

Current Pediatric Diagnosis&Treatment, Hathaway, et al, 1993

Complete Guide to Symptoms, Illness,&Surgery, H. W. Griffith, 2000

Harrison's Principles of Internal Medicine, Fauci, et al., 2000

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