Cystinuria is a genetic disease characterized by high concentrations of the amino acid cystine in the urine.

These high levels of cysteine lead to the formation of cystine stones in the kidneys, ureter, and bladder. These cystine stones generate various complications (hypertension, intense cramping pain in the kidney or the urinary tract, recurrent urinary tract infections, renal function impairment in up to 70% of patients and chronic renal insufficiency) that can ultimately lead to renal failure.


There are estimated to be 70,000 and 25,000-35,000 patients with Cystinuria in Europe and the US, respectively.