To have the symptoms of cystinuria, you must inherit the faulty gene from both parents. Your children will also inherit a copy of the faulty gene from you.
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.
The goal of treatment is to relieve symptoms and prevent more stones. A person with severe symptoms may need to be admitted to a hospital.
Treatment involves drinking plenty of fluids, especially water, to produce large amounts of urine. You 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 release and stone formation.
You may need pain relievers to control pain in the kidney or bladder area when you pass stones. Smaller stones usually pass through the urine on their own. Larger stones may need extra treatments. Some large stones may need to be removed with surgery:
Call your health care provider if you have symptoms of urinary tract stones.
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.
Elder JS. Urinary lithiasis. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 541.
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.