Cystinuria

• autosomal recessive
• disorder in the transporter of cystine, ornithine, arginine, lysine (amino acid symbols: CORK)
• Since cystine is not very soluble, patients have recurrent renal stones
• Treat with fluid intake and sometimes with penicillamine or thiola, which chelates cystine.
• unusual odor: sulfurous smell to patient (Unusual Odors)

Cystinuria vs Cystinosis

• Cystinuria (think of a CORK floating in urine, and (renal) stones sinking), but no CORneal deposits - that's in cystinosis

• Cystinuria involves cystine, ornithine, arginine and lysine transporters.

• Cystinosis only involves lysosomal cystine transporter, which causes proximal tubule cell damage.

Distinguish from Cystinosis

CHLA Board Review 2005