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Urogenital Imaging

Cystinuria, renal

an automsomal recessive inborn error of metabolism which is characterized by defective renal tubular reabsorption of dibasic amino acids (cystine, ornithine, lysine and arginine). Cystine lithiasis is the only clinical manifestation of this defect, and accounts for 1-2% of all urinary stones. Heterozygotes demonstrate variable degrees of cystinuria and occasionally develop cystine stones. The prevalence of clinically evident cystinuria is 1 in 20,000. Cystine stones are rarely pure, and are usually mixed with calcium and other metabolites. As a result, the radiographic appearances are variable ( Fig.1). Cystine stones may be single, multiple or staghorn calculus. Pure cystine stones are not as dense as calcium stones, but are still usually dense enough to be visible on plain radiographs. The radiographic detection of a lightly dense laminated ground-glass stone should raise consideration of a cystine stone.

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Fig.1

Intravenous urogram showing radiolucent stones in the distal right ureter, in a patient with cystinuria.
Cystinuria, renal, Fig.1