A Case of 2,8-Dihydroxyadenine Urolithiasis in a Child With a Deficiency of Adenine Phosphoribosyltransferase

Abstract

A 23-month-old girl with a chief complaint of urinary tract infection was referred to our hospital. Abdominal CT revealed bilateral hydronephrosis with a radiolucent urinary stone. Emergency nephrostomy and transurethral ureterolithotripsy was successfully performed. The spectrophotometric analysis of the stone indicated a 2,8-dihydroxyadenine stone. The patient was found by a PCR method to have adenine phosphoribosyltransferase deficiency. The bilateral hydronephrosis improved ESWL for both pyelolithiases, but the stone remains. A small-dose oral allopurinol regimen was employed as a follow up.