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Recurrent 2,8-Dihydroxyadenine Nephropathy: A Rare but Preventable Cause of Renal Allograft Failure
| Content Provider | Scilit |
|---|---|
| Author | Zaidan, M. Palsson, R. Merieau, E. Gall, E. Cornec-Le Garstka, A. Maggiore, U. Deteix, P. Battista, M. Gagné, E. -R. Ceballos-Picot, I. Huyen, J. -P. Duong Van Legendre, C. Daudon, M. Edvardsson, V. O. Knebelmann, B. |
| Copyright Year | 2014 |
| Description | Journal: American Journal of Transplantation 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. |
| Related Links | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560835/pdf |
| Ending Page | 2632 |
| Page Count | 10 |
| Starting Page | 2623 |
| e-ISSN | 16006143 |
| DOI | 10.1111/ajt.12926 |
| Journal | American Journal of Transplantation |
| Issue Number | 11 |
| Volume Number | 14 |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2014-10-10 |
| Access Restriction | Open |
| Subject Keyword | Journal: American Journal of Transplantation Urology and Nephrology Clinical Research/practice Kidney (allograft) Function/dysfunction Kidney Disease Kidney Transplantation/nephrology |
| Content Type | Text |
| Resource Type | Article |
