Cystinuria is an inherited disease that causes stones made of the amino acid cystine to form in the kidneys, bladder, and ureters. Symptoms typically first occur in young adults in their 20s and 30s.It is a lifelong condition that can be managed effectively with treatment. If not treated properly, cystinuria can be extremely painful and may lead to serious complications. The condition rarely causes kidney failure. Frequent stone formation causing blockage and surgical procedures can impact kidney function over time. The symptoms may include: 1.blood in the urine 2.severe pain in the side or the back, almost always on one side 3.nausea and vomiting 4.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?
A paediatrician suggests the following as treatment to cystinuria: 1. Dietary changes: reduction of salt intake 2. Taking supplements that help in adjusting the pH balance 3.Medications for pain 4. Surgery
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