Cystinuria is a rare condition in which stones made from an amino acid called cystine form in the kidney, ureter, and bladder. The condition is passed down through families.
Stones - cystine; Cystine stones
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. Normally, most cystine dissolves and returns to the bloodstream after entering the kidneys. 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. These crystals 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.
Flank pain or pain in the side or back. Pain is most often on one side; it is rarely felt on both sides. Pain is often severe. It may get worse over days. You may also feel pain in the pelvis, groin, genitals, or between the upper abdomen and back.
Exams and Tests
The disorder is most often diagnosed after an episode of kidney stones. Testing the stones shows that they are made of cystine.
Tests that may be done to detect stones and diagnose this condition include:
The goal of treatment is to relieve symptoms and prevent more stones from forming. A person with severe symptoms may need to go into the hospital.
Treatment involves drinking plenty of fluids, especially water, to produce large amounts of urine. You should drink at least 6 to 8 glasses per day.
In some cases, fluids may need to be given through a vein (by IV).
Medicines 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 most often pass through the urine on their own. Larger stones may need extra treatments. Some large stones may need to be removed with surgery:
Extracorporeal shock wave lithotripsy (ESWL). Sound waves are passed through the body and are focused on the stones to break them into small, passable fragments. ESWL may not work well for cystine stones because they are very hard as compared with other types of stones.
Call your health care provider if you have symptoms of urinary tract stones.
There are medicines that can be taken so cystine does not form a stone. Ask your provider about these medicines and their side effects. 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. Decreasing your intake of salt or sodium will help as well.
Elder JS. Urinary lithiasis. In: Kliegman RM, Stanton BF, St. Geme JW III, et al., eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 541.
Jennifer Sobol, DO, urologist at the Michigan Institute of Urology, West Bloomfield, MI. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.