[Recurrent urinary lithiasis revealing hereditary xanthinuria].

INTRODUCTION

Hereditary xanthinuria, due to a purine metabolism disorder, is a rare cause of urinary lithiasis in children.

CASE

We report the case of a child aged 3 and a half years, who presented recurrent urinary lithiasis that led to destruction of the right kidney. Infrared spectrophotometric analysis of the calculus concluded that it was composed of 100% xanthine. Laboratory tests showed hypouricemia and hypouricosuria with elevated urinary excretion of oxypurines. These findings led to a diagnosis of hereditary xanthinuria.

CONCLUSION

Early diagnosis of this rare disease is essential to avoid its complications. Metabolic causes must be sought in children with lithiasis.