Etymed
cystinuria
Definition
A genetic disorder characterized by the excessive excretion of cystine in the urine due to defective transport mechanisms in the renal tubules
Clinical context
A 28-year-old man presents with recurrent nephrolithiasis and flank pain. His urine analysis shows high levels of cystine, and he has a family history of kidney stones. He is diagnosed with cystinuria after genetic testing confirming defective renal tubular transport mechanisms. He requires increased fluid intake and medications to alkalinize his urine to prevent stone formation.
Mnemonic
Cystinuria = Cystine stones in urine due to tubular transport defects