Cystinuria is an inherited autosomal recessive disease that is characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder. Symptoms typically first occur in young adults in their 20s and 30s. The symptoms may include:
• blood in the urine
• severe pain in the side or the back, almost always on one side
• nausea and vomiting
• pain near the groin, pelvis, or abdomen
HOW IS CYSTINURIA DIAGNOSED?
Cystinuria is usually diagnosed when someone experiences an episode of cystine stones. A diagnosis is then made by testing the stones to see if they are made out of cystine. Rarely is genetic testing done. Additional diagnostic testing could include the following: 1. 24 Hr urine collection for testing 2. Pyelogram 3. CT scan
HOW IS CYSTINURIA TREATED?
Prevention of Cystinuria can be done by reducing the salt intake. Other treatment methods are use of alkalizing agents to make urine more cystine soluble. Medications like chelating agents will help dissolve the cystine crystals. Pain medication may be prescribed to reduce pain. Surgery may be needed in severe cases of Cystinuria
DID YOU KNOW?
The stones appear most commonly in young adults under the age of 40, and may occur less frequently with age.