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Medullary cystic kidney disease

Definition

Medullary cystic kidney disease 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

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 people. 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

Exams and Tests

The health care provider will examine you and ask about your symptoms. The exam may reveal that your blood pressure is low. Your 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 taking medicines and diet changes, limiting foods containing phosphorus and potassium. You may need dialysis and a kidney transplant.

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.

Possible Complications

MCKD may lead to the following health problems:

When to Contact a Medical Professional

Call for an appointment with your 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

O'Toole JF, Hildebrandt F. Nephronophthisis and medullary cystic kidney disease. In: Gilbert SJ, Weiner DE, eds. National Kidney Foundation's Primer on Kidney Diseases. 6th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 42.

Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Taal MW, Chertow GM, Marsden PA, Skorecki K, Yu A, Brenner BM, eds. Brenner and Rector's The Kidney. 9th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 45.

Review Date:9/22/2015
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, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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Outcome Data

No data available for this condition/procedure.

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