Imaging Characteristics of 2,8-Dihydroxyadenine Stones: Review of a Rare Disorder

Abstract

Adenine phosphoribosyl transferase (APRT) deficiency is a rare genetic condition that often presents with recurrent dihydroxyadenine (DHA) urolithiasis. To our knowledge, no CT imaging of DHA stones has been previously reported in English medical literature. We report a case of an 86-year-old woman with a large DHA stone in her upper left ureter. On CT imaging the stone was low density and had an unusual linear central lucency. We also review the literature for this rare disorder.




World J Nephrol Urol. 2014;3(4):154-156
doi: http://dx.doi.org/10.14740/wjnu160w