Crystalline nephropathy due to 2,8-dihydroxyadeninuria: An under-recognized cause of irreversible renal failure

Nephrology Dialysis Transplantation

Volumn 25, Issue 6, 2010, Pages 1909-1915

  Nasr, Samih H ^a   Sethi, Sanjeev ^a   Cornell, Lynn D ^a   Milliner, Dawn S ^a   Boelkins, Mark ^b   Broviac, John ^c   Fidler, Mary E ^a  

^a MAYO CLINIC   (United States)

^b St Mary's Health Care   (United States)

^c Mid Michigan Orthopaedic Institute   (United States)

Author keywords

2,8 dihydroxyadeninuria; Adenine phosphoribosyltransferase; Crystalline nephropathy; Disease recurrence; Renal failure

Indexed keywords

2,8 DIHYDROXYADENINE;

2,8 DIHYDROXYADENINURIA; ADULT; ARTICLE; CASE REPORT; CREATININE BLOOD LEVEL; CRYSTALLINE NEPHROPATHY; DIFFERENTIAL DIAGNOSIS; FEMALE; HUMAN; HYPEROXALURIA; INTERSTITIAL NEPHRITIS; KIDNEY ALLOGRAFT; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; PRIORITY JOURNAL; RECURRENT DISEASE;

ADENINE; ADENINE PHOSPHORIBOSYLTRANSFERASE; ADULT; ALLOPURINOL; CRYSTALLIZATION; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENES, RECESSIVE; HUMANS; HYPEROXALURIA, PRIMARY; KIDNEY; KIDNEY DISEASES; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; MALE; MIDDLE AGED; RECURRENCE; UNITED STATES; URINARY CALCULI;

EID: 77952981103     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfp711     Document Type: Article

References (21)

1. Edvardsson V, Palsson R, Olafsson I et al. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland. Am J Kidney Dis 2001; 38: 473-480
2. Arnadottir M, Laxdal T, Hardarson S et al. Acute renal failure in a middle-aged woman with 2, 8-dihydroxyadeninuria. Nephrol Dial Transplant 1997; 12: 1985-1987
3. Brown HA. Recurrence of 2, 8-dihydroxyadenine tubulointerstitial lesions in a kidney transplant recipient with a primary presentation of chronic renal failure. Nephrol Dial Transplant 1998; 13: 998-1000
4. Kamatani N, Terai C, Kuroshima S et al. Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies. Hum Genet 1987; 75: 163-168
5. Ceballos-Picot I, Perignon JL, Hamet M et al. 2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease. Lancet 1992; 25: 1050-1051
6. Glicklich D, Gruber HE, Matas AJ et al. 2, 8-dihydroxyadenine uro-lithiasis: report of a case first diagnosed after renal transplant. Q J Med 1988; 68: 785-793
7. Witten FR, Morgan JW, Foster JG et al. 2, 8-dihydroxyadenine uro-lithiasis: review of the literature and report of a case in the United States. J Urol 1983; 130: 938-942
8. Manyak MJ, Frensilli FJ, Miller HC. 2, 8-Dihydroxyadenine urolith-iasis: report of an adult case in the United States. J Urol 1987; 137: 312-314
9. Lamontagne AE Jr. 2, 8-Dihydroxyadenine urolithiasis: report of a case in a woman in the United States. J Urol 1989; 142: 369-370
10. Benedetto B, Madden R, Kurbanov A et al. Adenine phosphoribosyl- transferase deficiency and renal allograft dysfunction. Am J Kidney Dis 2001; 37: E37
11. Gagné ER, Deland E, Daudon M et al. Chronic renal failure secondary to 2, 8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant. Am J Kidney Dis 1994; 24: 104-107
12. Greenwood MC, Dillon MJ, Simmonds HA et al. Renal failure due to 2, 8-dihydroxyadenine urolithiasis. Eur J Pediatr 1982; 138: 346-349
13. Simmonds H, Van Acker KJ, Sahota AS. 2,8-Dihydroxyadenine uro-lithiasis. Lancet 1992; 23: 1295-1296
14. de Jong DJ, Assmann KJ, De Abreu RA et al. 2, 8-Dihydroxya-denine stone formation in a renal transplant recipient due to ade-nine phosphoribosyltransferase deficiency. J Urol 1996; 156: 1754-1755
15. Cassidy MJ, McCulloch T, Fairbanks LD et al. Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. Nephrol Dial Transplant 2004; 19: 736-738
16. Eller P, Rosenkranz AR, Mark W et al. Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. Clin Nephrol 2004; 61: 217-221
17. Engle SJ, Stockelman MG, Chen J et al. Adenine phosphoribosyl- transferase-deficient mice develop 2,8-dihydroxyadenine nephro-lithiasis. Proc Natl Acad Sci USA 1996; 28: 5307-5312
18. Tamura M, Aizawa R, Hori M et al. Progressive renal dysfunction and macrophage infiltration in interstitial fibrosis in an adenine-in-duced tubulointerstitial nephritis mouse model. Histochem Cell Biol 2009; 131: 483-490
19. Said SM, Nasr SH, Samsa R et al. Nephrotoxicityof antiretroviral therapy in an HIV-infected patient. Kidney Int 2007; 71: 1071-1075
20. Justrabo E, Zanetta G, Martin L et al. Irreversible glomerular lesions induced by crystal precipitation in a renal transplant after foscarnet therapy for cytomegalovirus infection. Histopathology 1999; 34: 365-369
21. Yarlagadda SG, Perazella MA. Drug-induced crystal nephropathy: an update. Expert Opin Drug Saf 2008; 7: 147-158