sodium-bicarbonate and Purine-Pyrimidine-Metabolism--Inborn-Errors

Hereditary xanthinuria, due to a purine metabolism disorder, is a rare cause of urinary lithiasis in children.. 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.. Early diagnosis of this rare disease is essential to avoid its complications. Metabolic causes must be sought in children with lithiasis.

Topics: Adult; Calculi; Calorimetry; Child, Preschool; Chromatography, Gas; Female; Humans; Hypoxanthine; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Recurrence; Sodium Bicarbonate; Spectrophotometry, Infrared; Time Factors; Urolithiasis; Xanthine