Successful Management of Adenine Phosphoribosyl Transferase Enzyme Deficiency in Renal Transplantation: A Case Report.

Abstract

Adenine phosphoribosyltransferase (APRT) enzyme deficiency is a rare inborn metabolic error causing an accumulation of 2,8 dihydroxyadenine (DHA), leading to kidney stones and crystal nephropathy. If untreated, it progresses to end stage renal disease (ESRD) with a subsequent risk of crystal nephropathy recurrence post-renal transplantation. Recurrence post-transplant can be prevented, and allograft outcomes can be improved if treatment with an xanthine oxidoreductase (XOR) inhibitor is initiated before or at the time of kidney transplantation. We describe a case involving a 24-year-old male with ESRD, found to have APRT enzyme deficiency during transplant evaluation, successfully managed with pre- and post-transplant XOR inhibitors to prevent recurrence, resulting in a positive allograft outcome.