[A case of Down syndrome with chronic renal failure caused by long-term asymptomatic hyperuricemia]

The elevation of serum urate levels in patients with Down syndrome has been reported by several investigators, but gout or renal dysfunction due to hyperuricemia has rarely been encountered. We described a case of Down syndrome showing chronic renal failure caused by long-term asymptomatic hyperuricemia. A 30-year-old man, who had persistent subclinical hyperuricemia for nine years, was noted to have pale face, weakness and hypertension. Laboratory findings revealed acute renal dysfunction. He died from uremic lung 7 months later. Autopsy disclosed a finding suggesting chronic urate nephropathy; many gouty microtophi with foreign body reaction in the renal medulla. It is important to estimate serum urate and to control increased serum urate level in order to prevent from renal dysfunction in Down syndrome.