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Alternative Names Return to topFamilial juvenile nephrophthisis; Senior-Loken syndrome
Definition Return to top
Medullary cystic kidney disease (MCKD) is a hereditary disorder in which cysts in the center of each kidney cause the kidneys to gradually lose their ability to work.
Causes Return to top
Medullary cystic kidney disease (MCKD) is very similar to the childhood disease familial juvenile nephronophthisis (NPH). Both lead to scarring of the kidney and formation of fluid-filled cavities (cysts) in the deeper parts of the kidney.
In these conditions, the kidneys don't concentrate the urine enough, leading to excessive urine production and loss of sodium.
MCKD occurs in older patients and is inherited in an autosomal dominant pattern. NPH occurs in young children and is usually due to autosomal recessive inheritance.
NPH may be associated with non-kidney features (like eye problems), while MCKD is limited to the kidneys.
Symptoms Return to top
Early in the disease, symptoms may include:
Late in the disease, symptoms of kidney failure may develop, which include:
Exams and Tests Return to top
Laboratory tests that may be done include:
The following tests can help diagnose this condition:
Treatment Return to top
There is no cure for this disease. At first, treatment focuses on controlling symptoms, reducing complications, and slowing the progression of the disease. Because of the loss of water and salt, the patient will need to drink plenty of fluids and take salt supplements to avoid dehydration.
As the disease gets worse, kidney failure develops. Treatment may involve medications and diet changes to limit foods containing phosphorus and potassium. Dialysis and a kidney transplant may be needed. For detailed information on treatment, see the articles on chronic kidney failure and end-stage kidney disease.
Outlook (Prognosis) Return to top
Most persons with MCKD reach end-stage kidney disease between the ages of 30 and 50. Lifelong treatment may control the symptoms of chronic kidney failure.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call for an appointment with your health care provider if you have any symptoms of medullary cystic disease.
Prevention Return to top
This is an inherited disorder, but the way it is inherited varies. Prevention may not be possible.Update Date: 10/22/2007 Updated by: Robert Mushnick, M.D., Clinical Assistant Professor, Department of Nephrology, SUNY Downstate Health Center, Brooklyn, NY. Review provided by VeriMed Healthcare Network.