Tecnología genética

Abstracto

Hereditary Xanthinuria with Recurrent Urolithiasis Occurring in Infancy

Afef Bahlous, Mehdi M’rad, Eya Kalaie, Mouna Bouksila, Manef Gasmi, Amira Mohsni, Kahena Bouzid and Jaouida Abdelmoula

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 three and half-year old child, who presented recurrent urinary lithiasis that, has led to the destruction of the right kidney. Infrared spectrophotometric analysis of the calculus showed that it was composed of 100% xanthine. Laboratory tests revealed 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.