• Internal medicine · Aug 2021

    Review Case Reports

    Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review.

    • Yamei Cheng, Luying Guo, Meifang Wang, Jianghua Chen, and Rending Wang.
    • Kidney Disease Center, The First Affiliated Hospital, College of Medicine, Zhejiang University, China.
    • Intern. Med. 2021 Aug 15; 60 (16): 2651-2657.

    AbstractWe herein report the case of a kidney transplant patient with recurrence of obstructive nephropathy that was not diagnosed as adenine phosphoribosyltransferase (APRT) deficiency until gene testing identified a pathogenic homozygous variant three years after renal transplantation. Subsequently, the patient was treated with allopurinol, and the allograft function increased progressively to normal. In addition, 20 cases of APRT deficiency in renal transplant recipients were also reviewed. We hope this case increases awareness of APRT deficiency in repeated obstructive nephropathy post-transplantation, which is a treatable disease for which the misdiagnosis or delayed diagnosis should be avoided.

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