ArticleIndian journal of nephrology
Successful Management of Adenine Phosphoribosyl Transferase Enzyme Deficiency in Renal Transplantation: A Case Report.
Article in Indian journal of nephrology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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