Mercy Hospital & Health Services Contact Us
MyChart
About Mercy
Join Our Team
set font size large set font size medium set font size small
email this page print this page
Health Illustrated Encyclopedia Banner
Health Illustrated Encyclopedia

Disclaimer:
Our Health Information Database is provided by A.D.A.M. the leading provider of electronic and printed information for professionals and consumers in healthcare and industry. It provides authoritative, reliable content written and reviewed by an editorial board who represent a variety of specialty areas. This board reviews and evaluates all healthcare information to ensure it is accurate, reliable, and can be used with complete confidence. And now you have access to the same authoritative, trusted clinical information relied upon by health professionals around the world.
Medullary cystic kidney disease

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, incidence, and risk factors

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 and other chemical changes in the blood and urine.

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 nonkidney features (like eye problems), while MCKD is limited to the kidneys.

Symptoms

Early in the disease, symptoms may include:

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

Signs and tests

Blood pressure may be low. The skin may show dryness, abnormal color, pallor, or easy bruising.

Laboratory tests that may be done include:

  • 24-hour urine volume
  • BUN (blood urea nitrogen)
  • Complete blood count (CBC)
  • Creatinine - blood
  • Creatinine clearance
  • Electrolytes - blood
  • Uric acid - blood
  • Urine specific gravity (will be low)

The following tests can help diagnose this condition:

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.

Support Groups

Expectations (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. The cysts associated with MCKD may be very small, but large numbers of them can lead to kidney impairment.

Complications

Calling your health care provider

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.

References

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

View Spanish Version

Encyclopedia Home
Drug Note Home
Health Information Home

Images

Care Points
    Read More

    Review Date: 11/30/2009

    Review By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Herbert Y. Lin, MD, PHD, Nephrologist, Massachusetts General Hospital; Associate Professor of Medicine, Harvard Medical School. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

    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. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2010 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

    www.adam.com
    www.mercyweb.org
    follow us online
    facebook youtube


    Contact us
    Home  |  Sitemap

    Disclaimer & Terms of Use  |  Privacy Statement  |  Notice of Privacy Practices
    Copyright ©2013 Mercy. Last modified 2/16/2011