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10.1111/ajt.12926

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suck abstract from ncbi


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pmid25307253      Am+J+Transplant 2014 ; 14 (11): 2623-32
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  • Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure #MMPMID25307253
  • Zaidan M; Palsson R; Gall ECL; Garstka A; Maggiore U; Deteix P; Battista M; Gagn� ER; Ceballos-Picot I; Van Huyen JPD; Legendre C; Daudon M; Edvardsson VO; Knebelmann B
  • Am J Transplant 2014[Nov]; 14 (11): 2623-32 PMID25307253show ga
  • 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 9 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 for 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, 2 patients had experienced allograft loss and 5 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.



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