Abstract
Cystinuria is a rare autosomal recessive metabolic disorder of renal and intestinal cystine transport. Cystine stones are found in only 1-2% of all stone formers. Patients with cystinuria are at high risk for nephrolithiasis and subsequent morbidity. Our patient is a 37-year-old male who presented for routine follow-up for polycystic kidney disease (PKD). He denied any history of passing nephroliths. He had no family history of PKD or personal history of kidney stones. Serum creatinine was 1.2 mg%. On routine urine microscopy, he was found to have multiple hexagonal cystine crystals. Urine pH was 7.5. Renal CT scan revealed enlarged polycystic kidneys and scattered bilateral intra-renal calculi. Urinary quantification of cystine was 1645 mg/day (normal excretion rate 30 mg/day). Patients with PKD are at increased risk for nephrolithiasis for a number of reasons including urinary acidification, concentrating defects and hypocitraturia. The molecular, cellular and genetic basis for cystinuria is distinctly different and presumably unrelated to the genetic defects in PKD. We suspect that the occurrence of these two unrelated genetic diseases in the same patient is a coincidental finding. Even after a thorough review of the published literature, we were unable to find a genetic relationship between cystinuria and cystic renal diseases. To our knowledge, this is the first report of a finding of cystinuria in an adult with PKD.