#4487 an Unexpected Case of 2,8-Dihydroxyadenine Nephropathy After Kidney Transplantation Related to New Variants of Adenine Phosphoribosiltransferase Gene
Abstract:Background and Aims
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of the purine metabolism which results in the conversion of adenine into 2,8 dihydroxyadenine (DHA) due to the activity of the xanthine oxidoreductase (XOR). Patients affected by APRT deficiency if not treated with inhibitors of XOR may develop 2,8-DHA nephropathy that might progress to end-stage kidney disease (ESKD) with the need of kidney transplant. The high rate of misdiagnosis … Show more
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