A 24-year-old man was admitted to our hospital because of gouty arthritis in the right instep and great toe. His initial attack of gout occurred at the age of 22. He had many cysts in both kidneys but not in the liver by study of abdominal CT and ultrasonography.
Two members of his family also suffered from polycystic kidney disease and gout. His serum urea was 12.7 mg/dl, creatinine 1.2 mg/dl, and uric acid 9.2 mg/dl on a regular diet. The mean daily urinary excretion of uric acid was 584 mg on a purine restricted diet. The uric acid clearance (CUA) was 5.7% and fractional excretion of uric acid (CUA/Ccr) was 5.3%, which suggested that reduced excretion of uric acid was the main cause of hyperuricemia in this patient. Urinary excretion of uric acid, hypoxanthine and xanthine were suppressed by oral administration of 3g pyrazinamide, similar to normal subjects. The activities of the enzyme HGPRT, APRT and PRPP synthetase in erythrocytes were normal. These results suggest that abnormal renal handling of uric acid is responsible for the onset of gout in this patient with polycystic kidney disease. This is the first report about familial occurrence of gout and polycystic kidney disease in Japan.
