2,8-Dihydroxyadenine Crystals on Urine Sediment in a Child With Hematuria: Case Report

Adenine phosphoribosyltransferase deficiency (APRTD) is an autosomal recessive metabolic disorder caused by a mutation in the gene encoding adenine phosphoribosyltransferase on chromosome 16q24. APRTD can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidneys, which results in crystalluria and the formation of urinary stones, ultimately causing renal damage and failure. The examination of urinary sediment for …