Recurrent 2,8-dihydroxyadenine nephropathy: A rare but preventable cause of renal allograft failure

M. Zaidan, R. Palsson, E. Merieau, E. Cornec-Le Gall, A. Garstka, U. Maggiore, P. Deteix, M. Battista, E. R. Gagné, I. Ceballos-Picot, J. P. Duong Van Huyen, C. Legendre, M. Daudon, V. O. Edvardsson, B. Knebelmann*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

35 Citations (Scopus)


Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive enzyme defect of purine metabolism that usually manifests as 2,8-dihydroxyadenine (2,8-DHA) nephrolithiasis and more rarely chronic kidney disease. The disease is most often misdiagnosed and can recur in the renal allograft. We analyzed nine patients with recurrent 2,8-DHA crystalline nephropathy, in all of whom the diagnosis had been missed prior to renal transplantation. The diagnosis was established at a median of 5 (range 1.5-312) weeks following the transplant procedure. Patients had delayed graft function (n = 2), acute-on-chronic (n = 5) or acute (n = 1) allograft dysfunction, whereas one patient had normal graft function at the time of diagnosis. Analysis of allograft biopsies showed birefringent 2,8-DHA crystals in renal tubular lumens, within tubular epithelial cells and interstitium. Fourier transformed infrared microscopy confirmed the diagnosis in all cases, which was further supported by 2,8-DHA crystalluria, undetectable erythrocyte APRT enzyme activity, and genetic testing. With allopurinol therapy, the allograft function improved (n = 7), remained stable (n = 1) or worsened (n = 1). At last follow-up, two patients had experienced allograft loss and five had persistent chronic allograft dysfunction. 2,8-DHA nephropathy is a rare but underdiagnosed and preventable disorder that can recur in the renal allograft and may lead to allograft loss. The authors report on nine patients with recurrent 2,8-dihydroxyadenine nephropathy following renal transplantation, pointing to adenine phosphoribosyltransferase deficiency as a rare but significant cause of renal allograft dysfunction.

Original languageEnglish
Pages (from-to)2623-2632
Number of pages10
JournalAmerican Journal of Transplantation
Issue number11
Publication statusPublished - 1 Nov 2014

Bibliographical note

Publisher Copyright:
© Copyright 2014 The American Society of Transplantation and the American Society of Transplant Surgeons.

Other keywords

  • Clinical research/practice
  • kidney (allograft) function/dysfunction
  • kidney disease
  • kidney transplantation/nephrology


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