Cystinuria is an inherited disease that causes the formation of amino acid cystine to form in the bladder, kidneys, and ureters. This disease is passed down from parents to children through a defective gene. People with Cystinuria have amino acid cystine build up in the form of stones causing pain. Symptoms are:
• Blood in urine
• Severe pain in the side or back
• Nausea and vomiting
• Pain near pelvis, groin 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?
The two most common kinds of treatments used here include D-Penicillamine and alpha-mercaptopropionylglycine medicines that are effective but have side effects. In case where the disease seems more complicated Extracorporeal shock wave lithotripsy or Percutaneous nephrostolithotomy can be conducted.
DID YOU KNOW?
Complications of Cystinuria are damage to kidney or bladder, urinary tract infections, ureteral obstruction