This is a genetic disorder that causes the formation of amino acid cystine stones in the kidney as well as the bladder and uterus of the patients. These amino acids are typically supposed to go back into the blood stream instead of turning into stones.
HOW IS CYSTINURIA DIAGNOSED?
The diagnosis involves an episode of kidney stones and testing the stones helps in detecting that they are made of cysteine. Tests that may be done to detect stones and diagnose this condition include:
• 24-hour urine collection
• Abdominal CT scan, MRI, or ultrasound
• Intravenous pyelogram (IVP)
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 symptoms can most commonly be found in young adults in their twenties and include pelvic and groin pain, as well as bleeding during urination.