Rare Diseases and Conditions: Medullary Cystic Kidney Disease Overview

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Medullary Cystic Kidney Disease

Medullary cystic kidney disease (MCKD) is a rare hereditary disorder that affects the function of the kidneys. This disorder causes cysts to form in the center of the kidneys, causing kidney function to decrease. This condition eventually leads to complete kidney failure.

MCKD causes scarring of the kidneys due to the formation of cysts. These cysts are filled with fluid and are found deep within the kidneys. The cysts cause the kidneys to improperly concentrate the urine. This leads to increased urine production and the loss of sodium from the body.


During different stages of the condition, different symptoms are present. During the early stage of the disease, common symptoms are excessive urination and frequent urination at night. The early stage of the disease usually causes salt cravings and low blood pressure. Weakness is also a common symptom.

The late stage of the disease cause much more severe symptoms as the kidneys begin to fail. Symptoms can range from coma to headache. People with MCKD can experience delirium, confusion, and decreased alertness. Other less serious symptoms include drowsiness, fatigue, and weakness. Many people experience easy bruising or bleeding, itching, and changes in skin color. Rarer symptoms include frequent hiccups, muscle twitching, and numbness of the extremities. Seizures are also a reported symptom of the disease. Other symptoms include nausea, bloody stools, and vomiting blood.


Diagnosing the condition is relatively simple. Urine is collected for 24 hours to measure the volume and contents of the urine. Blood pressure is monitored, especially if it is low. A blood test will be taken to gain a complete blood count. Creatinine levels will be checked. Additional tests often include an abdominal CT scan or ultrasound to help diagnose the condition. Renal biopsy is used to determine the presence of cysts.


Currently there is no cure for this rare condition. During the early stages of the disease, treatment consists of treating the symptoms to slow the progression of the disease. During the early stages, it is best to drink more fluids and consume plenty of salt.

In the late stage of the disease, treatment will begin to include medications as the kidneys begin to fail. A strict diet should be followed to limit potassium and phosphorus intake. Dialysis is often needed and sometimes a kidney transplant is required.

Even with the treatments in place to extend the function of the kidneys, the life expectancy of a person with the disease is generally 30 to 50 years. Life-long treatment is needed to control the symptoms of the disease.


“Medullary Cystic Kidney Disease” by Robert Mushnick, M.D. 11/30/09 MedlinePlus

“Medullary Cystic Kidney Disease- Overview” 10/22/07 University of Maryland

“Medullary Cystic Disease” by Prasad Devarajan, M.D. 12/15/08 Emedicine