What is Cystinuria?

characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder

What is the inheritance pattern of Cystinuria?

autosomal recessive

What are the genes related to Cystinuria?

chromosome 2: SLC3A1 gene, chromosome 19: SLC7A9

What are the main clinical features of Cystinuria?

• recurrent renal stones
• are classically yellow and crystalline, appearing semi-opaque on x-ray

How is Cystinuria diagnosed?

cyanide-nitroprusside test

What is the management of Cystinuria?

• hydration
• D-penicillamine
• urinary alkalinization