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    Medullary cystic kidney disease

    Familial juvenile nephronophthisis; Senior-Loken syndrome

    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.

    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 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.

    Symptoms

    Early in the disease, symptoms may include:

    • Excessive urination (polyuria)
    • Salt cravings
    • Urination at night (nocturia)
    • Weakness

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

    • Coma
    • Confusion
    • Decreased alertness
    • Easy bruising or bleeding
    • Fatigue
    • Frequent hiccups
    • Headache
    • Increased skin color (skin may appear yellow or brown)
    • Itching
    • Malaise (general ill feeling)
    • Muscle twitching or cramps
    • Nausea
    • Pale skin
    • Reduced sensation in the hands, feet, or other areas
    • Seizures
    • Vomiting blood or blood in the stool
    • Weight loss
    • Weakness

    Exams and Tests

    Blood pressure may be low. The skin may be:

    • Abnormally colored
    • Dry
    • Easy to bruise
    • Pale

    Tests that may be done include:

    • 24-hour urine volume and electrolytes
    • Blood urea nitrogen (BUN)
    • Complete blood count (CBC)
    • Creatinine - blood
    • 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

    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 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

    Outlook (Prognosis)

    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.

    • Anemia
    • Bone weakening and fractures
    • Cardiac tamponade
    • 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)
    • Infertility
    • Menstrual problems
    • Miscarriage
    • 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.

    Prevention

    Medullary cystic kidney disease is an inherited disorder. It may not be preventable.

    References

    Arnaout MA. Cystic kidney disease. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 128.

    Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Brenner BM, ed. Brenner and Rector's The Kidney. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 41.

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    • Kidney anatomy

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      • Kidney anatomy

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      A Closer Look

        Self Care

          Tests for Medullary cystic kidney disease

          Review Date: 9/8/2013

          Reviewed By: Charles Silberberg, DO, Private Practice specializing in Nephrology, Affiliated with New York Medical College, Division of Nephrology, Valhalla, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

          The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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