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 will be done by a general physician with the help of genetic testing that includes 24 hours urine collection for analysis in the lab. Also, the doctor can conduct a CT scan and an Intravenous Pyelogram which is an X ray that can detect such stones. Urinalysis will also be carried out.
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?
If not treated properly, Cystinuria can be extremely painful and may lead to serious complications. These complications include:
• kidney or bladder damage from a stone
• urinary tract infections
• kidney infections
• ureteral obstruction, a blockage of the ureter, the tube that drains urine from the kidneys to the bladder