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Medullary cystic kidney disease
Alternative namesFamilial juvenile nephrophthisis; Senior-Loken syndrome
DefinitionMedullary cystic disease is a hereditary disorder where the kidneys gradually lose their ability to function because of cysts in the medulla (center) of each kidney.
Causes, incidence, and risk factors
Medullary cystic kidney disease (MCKD) is very similar to the childhood disease juvenile nephronopthesis (NPH). Both lead to scarring of the kidney and formation of fluid-filled cavities in the deeper parts of the kidney (medullary cysts).
However, NPH occurs in young children and is usually due to autosomal recessive inheritance. MCKD occurs in older patients and is transmitted in an autosomal dominant pattern.
In these conditions, the kidneys don't concentrate the urine enough, leading to excessive urine production and loss of sodium. Salt supplementation may be required. Additional kidney problems follow. Most MCKD patients reach end-stage kidney disease between the ages of 30 and 50. NPH patients are about 4 years of age when it begins.
NPH may be associated with non-kidney features (like abnormalities in the eyes), while MCKD is limited to the kidneys only.
Early in the course of the disease, the symptoms include:
Late in the disease, the symptoms of kidney failure may develop:
Signs and tests
Early in the course, the physician may identify:
The diagnosis can be established with:
As the disease progresses, kidney failure follows:
There is no cure for this disease. At first, treatment focuses on controlling symptoms, minimizing complications, and slowing the progression of the disease. Because of the loss of water and salt, the patient will need a liberal intake of both to avoid dehydration.
As the disease progresses, kidney failure develops and appropriate changes will be made:
Once end-stage kidney disease approaches, dialysis may be started. If a suitable donor becomes available, a kidney transplant may be performed.
Expectations (prognosis)There is no cure for chronic kidney failure resulting from medullary cystic disease. Untreated, it usually progresses to end-stage kidney disease . Lifelong treatment may control the symptoms of chronic kidney failure.
Calling your health care providerCall for an appointment with your health care provider if you have any symptoms of medullary cystic disease.
PreventionThis is an inherited disorder, but the way it is inherited varies. Prevention may not be possible.
Update Date: 2/11/2004Irfan A. Agha, M.D., Department of Medicine, Renal Division, St. Louis University, St. Louis, MO. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT