Medullary cystic kidney disease (MCKD) is an inherited condition in which cysts in the center of each kidney cause the kidneys to gradually lose their ability to work.
Familial juvenile nephronophthisis; Senior-Loken syndrome
Medullary cystic kidney disease (MCKD) is very similar to the childhood disease familial juvenile nephronophthisis (NPH). Both lead to scarring of the kidney and fluid-filled cavities (cysts) in the deeper parts of the kidney.
In these conditions, the kidneys do not concentrate the urine enough. This leads to too much urine production and the loss of sodium and other important chemicals from the blood.
MCKD occurs in older patients. NPH is found in young children. Both conditions are inherited.
NPH may occur with eye or nervous system problems. MCKD is limited to the kidneys.
Early in the disease, symptoms may include:
- Excessive urination (polyuria)
- Salt cravings
Urination at night(nocturia)
Late in the disease, symptoms of kidney failure may develop, which include:
- Decreased alertness
- Easy bruising or bleeding
- Frequent hiccups
- Increased skin color (skin may appear yellow or brown)
Malaise(general ill feeling)
- Muscle twitching or cramps
- Pale skin
- Reduced sensation in the hands, feet, or other areas
- Vomiting blood or blood in the stool
- Weight loss
Exams and Tests
Blood pressure may be low. The skin may be:
Easy to bruise
Tests that may be done include:
24-hour urine volumeand electrolytes
Blood urea nitrogen(BUN)
Complete blood count(CBC)
Creatinine clearance– blood and urine
- Uric acid – blood
Urine specific gravity(will be low)
The following tests can help diagnose this condition:
Abdominal CT scan
Abdominal ultrasound Kidney biopsy
- Kidney ultrasound
There is no cure for this disease. At first, treatment focuses on controlling symptoms, reducing complications, and slowing the progression of the disease. Because so much water and salt are lost, you 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, limiting foods containing phosphorus and potassium. You may need dialysis and a kidney transplant.
For detailed information on treatment, see:
Chronic kidney failure
End-stage kidney disease
Most people with MCKD reach end-stage kidney disease between ages 30 and 50. Lifelong treatment may control the symptoms of chronic kidney disease. The cysts that occur with MCKD may be very small, but large numbers of them can lead to kidney problems.
- Bone weakening and fractures
- Changes in glucose metabolism
- Congestive heart failure
- End-stage kidney disease
- Gastrointestinal bleeding, ulcers
- Hemorrhage (excessive bleeding)
High blood pressure Hyponatremia(low blood sodium level) Hyperkalemia(too much potassium in the blood), especially with end-stage kidney disease Hypokalemia(too little potassium in the blood)
- Menstrual problems
Pericarditis Peripheral neuropathy
- Platelet dysfunction with easy bruising
- Skin color changes
When to Contact a Medical Professional
Call for an appointment with your health care provider if you have any symptoms of medullary cystic disease.
Medullary cystic kidney disease is an inherited disorder. It may not be preventable.