Cystinuria

Cystinuria is a genetic disorder that affects how the kidneys handle certain amino acids, specifically cystine. Normally, kidneys filter these amino acids from the blood and reabsorb them for use or disposal. In cystinuria, the reabsorption process is faulty, causing excess cystine to accumulate in the urine. When cystine concentration becomes high enough, it can form stones in the kidneys, bladder, or urinary tract, leading to pain, infections, or blockages. Treatment often includes drinking plenty of fluids, medications to reduce stone formation, and dietary adjustments to lower cystine levels.