Presse medicale (Paris, France : 1983) · 2007
[Recurrent urinary lithiasis revealing hereditary xanthinuria].
Клинический случайСравнительное исследованиеАннотация на английскомСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Bahlous Afef, Gasmi Manef, Mohsni Amira, Abdelmoula Jaouida
Аннотация
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.
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.