In this paper we describe how an accurate urinary sediment examination, which revealed the presence of a severe 2,8-dihydroxyadenine crystalluria, opened the way to an articulate and successful diagnostic and therapeutic roadmap for a rare and potentially severe renal disease.
Keywords: 2,8- dihydroxyadenine; Adenine phosphoribosyltransferase deficiency; Crystalluria; Urinalysis; Urinary crystals; Urinary sediment.
Copyright © 2019. Published by Elsevier B.V.