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Kidney anatomy
Kidney anatomy


Kidney cyst with gallstones, CT scan
Kidney cyst with gallstones, CT scan


Kidney - blood and urine flow
Kidney - blood and urine flow


Medullary cystic kidney disease

Definition:

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.



Alternative Names:

Familial juvenile nephronophthisis; 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 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:

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


Signs and tests:

Blood pressure may be low. The skin may be:

  • Abnormally colored
  • Dry
  • Easy to bruise
  • Pale

Tests that may be done include:

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 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:



Support Groups:



Expectations (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.



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:

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.




Review Date: 9/19/2011
Reviewed 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- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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