Medullary cystic kidney disease

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Definition

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.

Alternative Names

Familial juvenile nephrophthisis; Senior-Loken syndrome

Causes

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

Early in the disease, symptoms may include:

Excessive urination (polyuria)
Low blood pressure
Need to urinate at night (nocturia)
Salt cravings
Weakness

Late in the disease, symptoms of kidney failure may develop, which include:

Coma
Confusion
Decreased alertness
Delirium
Drowsiness
Easy bruising or bleeding
Extreme sleepiness (lethargy)
Fatigue
Frequent hiccups
General ill feeling
Generalized itching
Headache
Increased skin pigmentation (skin may appear yellow or brown)
Muscle twitching or muscle cramps
Nausea
Pale skin
Reduced sensation in the hands, feet, or other areas
Seizures
Unintentional weight loss
Vomiting blood or blood in the stool
Weakness

Exams and Tests

Laboratory tests that may be done include:

24-hour urine volume
Blood pressure measurement (may be low)
BUN (blood urea nitrogen)
Complete blood count
Creatinine level and creatinine clearance
Urine specific gravity (will be low)

The following tests can help diagnose this condition:

Abdominal ultrasound or abdominal CT scan
Renal biopsy

Treatment

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)

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

Anemia
Cardiac tamponade
Changes in glucose metabolism
Changes in electrolyte levels ( hyperkalemia)
Congestive heart failure
End-stage kidney disease
Gastrointestinal bleeding, ulcers
Hemorrhage
High blood pressure
Hyponatremia
Infertility
Menstrual irregularities
Miscarriage
Pericarditis
Peripheral neuropathy
Permanent skin coloring changes
Platelet dysfunction
Weakening of the bones, fractures, joint disorders

When to Contact a Medical Professional

Call for an appointment with your health care provider if you have any symptoms of medullary cystic disease.

Prevention

This is an inherited disorder, but the way it is inherited varies. Prevention may not be possible.

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