LOC100996693
loc100996693: Cystinuria
Description
Cystinuria is a rare genetic disorder characterized by the excessive excretion of the amino acid cystine in the urine. This condition arises from a defect in the renal and intestinal transporters responsible for reabsorbing cystine, leading to its accumulation in the kidneys and urinary tract. Cystine, when present in high concentrations, crystallizes and forms stones within these structures, causing obstruction and urinary tract complications.
Associated Diseases
Cystinuria is often associated with the following conditions:
- Nephrolithiasis: Formation of kidney stones composed primarily of cystine crystals.
- Ureteral stones: Accumulation of cystine stones in the ureters, tubes connecting the kidneys to the bladder.
- Bladder stones: Development of cystine stones within the urinary bladder.
- Hydronephrosis: Swelling of the kidneys due to obstruction of urine flow caused by cystine stones.
Did you Know ?
- Approximately 1 in 7,000 individuals worldwide is affected by cystinuria, with a higher prevalence in certain populations, such as Eastern Europe and the Middle East.
