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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.
Cystinuria

Definition

Cystinuria is a condition passed down through families in which stones form in the kidney, ureter, and bladder.

See also: Nephrolithiasis

Alternative Names

Stones - cystine; Cystine stones

Causes, incidence, and risk factors

Cystinuria is an autosomal recessive disorder, so you must inherit the faulty gene from both parents in order to have symptoms.

Cystinuria is caused by too much of an amino acid called cystine in the urine. After entering the kidneys, most cystine normally dissolves and goes back into the bloodstream. But people with cystinuria have a genetic defect that interferes with this process. As a result, cystine builds up in the urine and forms crystals or stones, which may get stuck in the kidneys, ureters, or bladder.

About one in every 10,000 people have cystinuria. Cystine stones are most common in young adults under age 40. Less than 3% of urinary tract stones are cystine stones.

Symptoms

  • Blood in the urine
  • Flank pain or pain in the side or back
    • Usually on one side; rarely felt on both sides
    • Often severe
    • May get increasingly worse over days
    • Pain may also be felt in the pelvis, groin, genitals, or between the upper abdomen and the back.

Signs and tests

The disorder is usually diagnosed after an episode of kidney stones. Analysis of the stones shows they are made of cystine.

Tests that may be done to detect stones and diagnose this condition include:

Treatment

The goal of treatment is to relieve symptoms and prevent the development of more stones. A person with severe symptoms may need to be admitted to a hospital.

Treatment involves drinking plenty of fluids, particularly water, so that large amounts of urine are produced. The patient should drink at least 6-8 glasses per day.

In some cases, fluids may need to be given through a vein (by IV).

Medications may be prescribed to help dissolve the cystine crystals. Eating less salt can also decrease cystine excretion and stone formation.

Pain relievers may be needed to control pain in the kidney or bladder area associated with the passage of stones. The stones usually pass through the urine on their own. If they do not, surgery may be needed:

Support Groups

Expectations (prognosis)

Cystinuria is a chronic, lifelong condition. Stones commonly return. However, the condition rarely results in kidney failure, and it does not affect other organs.

Complications

Calling your health care provider

Call your health care provider if you have symptoms of urinary tract stones.

Prevention

There is no known prevention for cystinuria. Any person with a known history of stones in the urinary tract should drink plenty of fluids to regularly produce a high amount of urine. This allows stones and crystals to leave the body before they become large enough to cause symptoms.

References

Rogers A, Kalakish S, Desai RA, Assimos DG. Management of cystinuria. Urol Clin North Am. 2007;34(3).
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Review Date: 8/30/2009

Review By: Louis S. Liou, MD, PhD, Assistant Professor of Urology, Department of Surgery, Boston University School of Medicine. 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.

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