Xanthine urolithiasis

Abstract EN

Hereditary xanthinuria type I, a defect of purine matabolism, results from a genetic deficiency of xanthine oxidase.

It is an uncommon cause of stone formation in children.

We report here two children with xanthine urolithiasis.

The first patient was an 8-year-old boy who presented with repeated episodes of hematuria evaluated with excretory urography, which demonstrated radiolucent pelvic stone in the right kidney, causing hydronephrosis.

He had pyelolithotomy, and the extracted stone consisted of pure xanthine.

Family study revealed an asymptomatic xanthinuria in younger brother.

The second patient was a 5-year-old boy who had a 2-week history of abdominal pain and gross hematuria.

Conventional excretory intravenous urography showed a non-functioning right kidney.

Nephrectomy was performed, and histology revealed end-stage pyelonephritis.

The calculi consisted of pure xanthine.

In both patients, plasma and urinary concentrations of uric acid were low but xanthine and hypoxanthine concentrations were markedly elevated.

Xanthine urolithiasis is usually a benign condition, easy to prevent or cure by appropriate alkalinization, forced hydration and restriction of dietary purines.

However asymptomatic, and therefore undiagnosed, stones may invade the kidney and urinary tract, resulting in destruction of parenchyma, nephrectomy and renal failure.