[Recurrent urinary lithiasis revealing hereditary xanthinuria].
BACKGROUND
Hereditary xanthinuria, due to a purine metabolism disorder, is a rare cause of urinary lithiasis in children.


METHODS
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.


CONCLUSIONS
Early diagnosis of this rare disease is essential to avoid its complications. Metabolic causes must be sought in children with lithiasis.
Bahlous
Afef
A
Service de biochimie clinique, Hôpital Charles Nicolle, Tunis, Tunisie. afef_bahlous@yahoo.fr
Gasmi
Manef
M
Mohsni
Amira
A
Abdelmoula
Jaouida
J
D000328:Adult; D002137:Calculi / Q000737:chemistry*; D002151:Calorimetry; D002675:Child, Preschool; D002849:Chromatography, Gas; D005260:Female; D006801:Humans; D019271:Hypoxanthine / Q000097:blood / Q000378:metabolism* / Q000652:urine*; D008297:Male; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000652:urine; D012008:Recurrence; D017693:Sodium Bicarbonate / Q000008:administration & dosage / Q000627:therapeutic use; D013055:Spectrophotometry, Infrared; D013997:Time Factors; D052878:Urolithiasis / Q000209:etiology*; D019820:Xanthine / Q000097:blood / Q000378:metabolism* / Q000652:urine*
D019820:Xanthine; D019271:Hypoxanthine; D017693:Sodium Bicarbonate