Mulay SR, Evan A, Anders HJ. Molecular mechanisms of crystal-related kidney inflammation and injury. Implications for cholesterol embolism, crystalline nephropathies and kidney stone disease. Nephrol Dial Transplant. 2014;29(3):507–14. doi:10.1093/ndt/gft248.
Article
CAS
PubMed
Google Scholar
Bollee G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Adenine phosphoribosyltransferase deficiency. Clin J Am Soc Nephrol. 2012;7(9):1521–7. doi:10.2215/CJN.02320312.
Article
CAS
PubMed
Google Scholar
Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS, et al. Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol. 2013;28(10):1923–42. doi:10.1007/s00467-012-2329-z.
Article
PubMed Central
PubMed
Google Scholar
Hoppe B. An update on primary hyperoxaluria. Nat Rev Nephrol. 2012;8(8):467–75. doi:10.1038/nrneph.2012.113.
Article
CAS
PubMed
Google Scholar
Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013;369(7):649–58. doi:10.1056/NEJMra1301564.
Article
CAS
PubMed
Google Scholar
Bollee G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, et al. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol. 2010;21(4):679–88. doi:10.1681/ASN.2009080808.
Article
PubMed Central
CAS
PubMed
Google Scholar
Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. Am J Kidney Dis. 2001;38(3):473–80. doi:10.1053/ajkd.2001.26826.
Article
CAS
PubMed
Google Scholar
Kamatani N, Terai C, Kuroshima S, Nishioka K, Mikanagi K. Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies. Hum Genet. 1987;75(2):163–8.
Article
CAS
PubMed
Google Scholar
Van Acker KJ, Simmonds HA, Potter C, Cameron JS. Complete deficiency of adenine phosphoribosyltransferase. Report of a family. N Engl J Med. 1977;297(3):127–32. doi:10.1056/NEJM197707212970302.
Article
PubMed
Google Scholar
Fye KH, Sahota A, Hancock DC, Gelb AB, Chen J, Sparks JW, et al. Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. Arch Intern Med. 1993;153(6):767–70.
Article
CAS
PubMed
Google Scholar
Johnson LA, Gordon RB, Emmerson BT. Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population. Biochem Genet. 1977;15(3-4):265–72.
Article
CAS
PubMed
Google Scholar
Srivastava SK, Villacorte D, Beutler E. Correlation between adenylate metabolizing enzymes and adenine nucleotide levels of erythrocytes during blood storage in various media. Transfusion. 1972;12(3):190–7.
CAS
PubMed
Google Scholar
Ceballos-Picot I, Perignon JL, Hamet M, Daudon M, Kamoun P. 2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease. Lancet. 1992;339(8800):1050–1.
Article
CAS
PubMed
Google Scholar
Harambat J, Bollee G, Daudon M, Ceballos-Picot I, Bensman A. Adenine Phosphoribosyltransferase deficiency in children. Pediatr Nephrol. 2012;27(4):571–9. doi:10.1007/s00467-011-2037-0.
Article
PubMed
Google Scholar
Fujimori S, Akaoka I, Sakamoto K, Yamanaka H, Nishioka K, Kamatani N. Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies. Hum Genet. 1985;71(2):171–6.
Article
CAS
PubMed
Google Scholar
Arnadottir M, Laxdal T, Hardarson S, Asmundsson P. Acute renal failure in a middle-aged woman with 2,8-dihydroxyadeninuria. Nephrol Dial Transplant. 1997;12(9):1985–7.
Article
CAS
PubMed
Google Scholar
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(4):998–1000.
Article
CAS
PubMed
Google Scholar
Hoppe B, Langman CB. A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria. Pediatr Nephrol. 2003;18(10):986–91. doi:10.1007/s00467-003-1234-x.
Article
PubMed
Google Scholar
van der Hoeven SM, van Woerden CS, Groothoff JW. Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort. Nephrol Dial Transplant. 2012;27(10):3855–62. doi:10.1093/ndt/gfs320.
Article
PubMed
Google Scholar
Lieske JC, Monico CG, Holmes WS, Bergstralh EJ, Slezak JM, Rohlinger AL, et al. International registry for primary hyperoxaluria. Am J Nephrol. 2005;25(3):290–6. doi:10.1159/000086360.
Article
PubMed
Google Scholar
Monico CG, Rossetti S, Belostotsky R, Cogal AG, Herges RM, Seide BM, et al. Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. Clin J Am Soc Nephrol. 2011;6(9):2289–95. doi:10.2215/CJN.02760311.
Article
PubMed Central
CAS
PubMed
Google Scholar
Beck BB, Hoyer-Kuhn H, Gobel H, Habbig S, Hoppe B. Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions. Expert Opin Investig Drugs. 2013;22(1):117–29. doi:10.1517/13543784.2013.741587.
Article
CAS
PubMed
Google Scholar
Harambat J, Fargue S, Acquaviva C, Gagnadoux MF, Janssen F, Liutkus A, et al. Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int. 2010;77(5):443–9. doi:10.1038/ki.2009.435.
Article
CAS
PubMed
Google Scholar
Monico CG, Rossetti S, Olson JB, Milliner DS. Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney Int. 2005;67(5):1704–9. doi:10.1111/j.1523-1755.2005.00267.x.
Article
CAS
PubMed
Google Scholar
Benedetto B, Madden R, Kurbanov A, Braden G, Freeman J, Lipkowitz GS. Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. Am J Kidney Dis. 2001;37(5):E37. doi:10.1016/S0272-6386(05)90001-2.
Article
CAS
PubMed
Google Scholar
Cassidy MJ, McCulloch T, Fairbanks LD, Simmonds HA. Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. Nephrol Dial Transplant. 2004;19(3):736–8. doi:10.1093/ndt/gfg562.
Article
PubMed
Google Scholar
Gagne ER, Deland E, Daudon M, Noel LH, Nawar T. Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant. Am J Kidney Dis. 1994;24(1):104–7.
Article
CAS
PubMed
Google Scholar
Kaartinen K, Hemmila U, Salmela K, Raisanen-Sokolowski A, Kouri T, Makela S. Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. J Am Soc Nephrol. 2014;25(4):671–4. doi:10.1681/ASN.2013090960.
Article
PubMed Central
CAS
PubMed
Google Scholar
Zaidan M, Palsson R, Merieau E, Cornec-Le Gall E, Garstka A, Maggiore U, et al. Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure. Am J Transplant. 2014;14(11):2623–32. doi:10.1111/ajt.12926.
Article
CAS
PubMed
Google Scholar
Stratta P, Fogazzi GB, Canavese C, Airoldi A, Fenoglio R, Bozzola C, et al. Decreased kidney function and crystal deposition in the tubules after kidney transplant. Am J Kidney Dis. 2010;56(3):585–90. doi:10.1053/j.ajkd.2009.12.028.
Article
PubMed
Google Scholar
Nasr SH, Sethi S, Cornell LD, Milliner DS, Boelkins M, Broviac J, et al. Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. Nephrol Dial Transplant. 2010;25(6):1909–15. doi:10.1093/ndt/gfp711.
Article
CAS
PubMed
Google Scholar
Glicklich D, Gruber HE, Matas AJ, Tellis VA, Karwa G, Finley K, et al. 2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant. Q J Med. 1988;68(258):785–93.
CAS
PubMed
Google Scholar
Ruder H, Otto G, Schutgens RB, Querfeld U, Wanders RJ, Herzog KH, et al. Excessive urinary oxalate excretion after combined renal and hepatic transplantation for correction of hyperoxaluria type 1. Eur J Pediatr. 1990;150(1):56–8.
Article
CAS
PubMed
Google Scholar
Broyer M, Brunner FP, Brynger H, Dykes SR, Ehrich JH, Fassbinder W, et al. Kidney transplantation in primary oxalosis: data from the EDTA Registry. Nephrol Dial Transplant. 1990;5(5):332–6.
Article
CAS
PubMed
Google Scholar
Bergstralh EJ, Monico CG, Lieske JC, Herges RM, Langman CB, Hoppe B, et al. Transplantation outcomes in primary hyperoxaluria. Am J Transplant. 2010;10(11):2493–501. doi:10.1111/j.1600-6143.2010.03271.x.
Article
PubMed Central
CAS
PubMed
Google Scholar
Harambat J, van Stralen KJ, Espinosa L, Groothoff JW, Hulton SA, Cerkauskiene R, et al. Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy. Clin J Am Soc Nephrol. 2012;7(3):458–65. doi:10.2215/CJN.07430711.
Article
PubMed Central
PubMed
Google Scholar
Naderi G, Latif A, Tabassomi F, Esfahani ST. Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2. Pediatr Transplant. 2014;18(3):E69–73. doi:10.1111/petr.12240.
Article
CAS
PubMed
Google Scholar
Schubert G. Stone analysis. Urol Res. 2006;34(2):146–50. doi:10.1007/s00240-005-0028-y.
Article
PubMed
Google Scholar
Daudon M, Jungers P, Bazin D. Peculiar morphology of stones in primary hyperoxaluria. N Engl J Med. 2008;359(1):100–2. doi:10.1056/NEJMc0800990.
Article
CAS
PubMed
Google Scholar
Dessombz A, Bazin D, Dumas P, Sandt C, Sule-Suso J, Daudon M. Shedding light on the chemical diversity of ectopic calcifications in kidney tissues: diagnostic and research aspects. PLoS One. 2011;6(11):e28007. doi:10.1371/journal.pone.0028007.
Article
PubMed Central
CAS
PubMed
Google Scholar
Jouvet P, Priqueler L, Gagnadoux MF, Jan D, Beringer A, Lacaille F, et al. Crystalluria: a clinically useful investigation in children with primary hyperoxaluria post-transplantation. Kidney Int. 1998;53(5):1412–6. doi:10.1046/j.1523-1755.1998.00876.x.
Article
CAS
PubMed
Google Scholar
Ceballos-Picot I, Daudon M, Harambat J, Bensman A, Knebelmann B, Bollee G. 2,8-dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism. Nucleosides, Nucleotides Nucleic Acids. 2014;33(4-6):241–52. doi:10.1080/15257770.2013.853780.
Article
CAS
PubMed
Google Scholar
Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, et al. Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant. 2012;27(5):1729–36. doi:10.1093/ndt/gfs078.
Article
CAS
PubMed
Google Scholar
Raju DL, Cantarovich M, Brisson ML, Tchervenkov J, Lipman ML. Primary hyperoxaluria: clinical course, diagnosis, and treatment after kidney failure. Am J Kidney Dis. 2008;51(1):e1–5. doi:10.1053/j.ajkd.2007.08.027.
Article
PubMed
Google Scholar
Barratt TM, Kasidas GP, Murdoch I, Rose GA. Urinary oxalate and glycolate excretion and plasma oxalate concentration. Arch Dis Child. 1991;66(4):501–3.
Article
PubMed Central
CAS
PubMed
Google Scholar
Hoppe B, Kemper MJ, Bokenkamp A, Portale AA, Cohn RA, Langman CB. Plasma calcium oxalate supersaturation in children with primary hyperoxaluria and end-stage renal failure. Kidney Int. 1999;56(1):268–74. doi:10.1046/j.1523-1755.1999.00546.x.
Article
CAS
PubMed
Google Scholar
Monico CG, Rossetti S, Schwanz HA, Olson JB, Lundquist PA, Dawson DB, et al. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. J Am Soc Nephrol. 2007;18(6):1905–14. doi:10.1681/ASN.2006111230.
Article
CAS
PubMed
Google Scholar
Rumsby G, Williams E, Coulter-Mackie M. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney Int. 2004;66(3):959–63. doi:10.1111/j.1523-1755.2004.00842.x.
Article
CAS
PubMed
Google Scholar
Williams E, Rumsby G. Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50 % of patients with primary hyperoxaluria type 1. Clin Chem. 2007;53(7):1216–21. doi:10.1373/clinchem.2006.084434.
Article
CAS
PubMed
Google Scholar
Arnadottir M. Febuxostat in adenosine phosphoribosyltransferase deficiency. Am J Kidney Dis. 2014;64(2):316. doi:10.1053/j.ajkd.2014.04.026.
Article
PubMed
Google Scholar
Marangella M, Petrarulo M, Cosseddu D, Vitale C, Linari F. Oxalate balance studies in patients on hemodialysis for type I primary hyperoxaluria. Am J Kidney Dis. 1992;19(6):546–53.
Article
CAS
PubMed
Google Scholar
Illies F, Bonzel KE, Wingen AM, Latta K, Hoyer PF. Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. Kidney Int. 2006;70(9):1642–8. doi:10.1038/sj.ki.5001806.
Article
CAS
PubMed
Google Scholar
Hoppe B, Graf D, Offner G, Latta K, Byrd DJ, Michalk D, et al. Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure. Pediatr Nephrol. 1996;10(4):488–92.
Article
CAS
PubMed
Google Scholar
Plumb TJ, Swee ML, Fillaus JA. Nocturnal home hemodialysis for a patient with type 1 hyperoxaluria. Am J Kidney Dis. 2013;62(6):1155–9. doi:10.1053/j.ajkd.2013.05.013.
Article
PubMed
Google Scholar
Cregeen DP, Williams EL, Hulton S, Rumsby G. Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Hum Mutat. 2003;22(6):497. doi:10.1002/humu.9200.
Article
PubMed
Google Scholar
van Woerden CS, Groothoff JW, Wijburg FA, Annink C, Wanders RJ, Waterham HR. Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int. 2004;66(2):746–52. doi:10.1111/j.1523-1755.2004.00796.x.
Article
PubMed
Google Scholar
Harps E, Brinkert F, Ganschow R, Briem-Richter A, van Husen M, Schmidtke S, et al. Immediate postoperative intensive care treatment of pediatric combined liver-kidney transplantation: outcome and prognostic factors. Transplantation. 2011;91(10):1127–31. doi:10.1097/TP.0b013e318216c1bb.
Article
PubMed
Google Scholar
Millan MT, Berquist WE, So SK, Sarwal MM, Wayman KI, Cox KL, et al. One hundred percent patient and kidney allograft survival with simultaneous liver and kidney transplantation in infants with primary hyperoxaluria: a single-center experience. Transplantation. 2003;76(10):1458–63. doi:10.1097/01.TP.0000084203.76110.AC.
Article
PubMed
Google Scholar
Malla I, Lysy PA, Godefroid N, Smets F, Malaise J, Reding R, et al. Two-step transplantation for primary hyperoxaluria: cadaveric liver followed by living donor related kidney transplantation. Pediatr Transplant. 2009;13(6):782–4. doi:10.1111/j.1399-3046.2008.01049.x.
Article
PubMed
Google Scholar
Mor E, Nesher E, Ben-Ari Z, Weissman I, Shaharabani E, Eizner S, et al. Sequential liver and kidney transplantation from a single living donor in two young adults with primary hyperoxaluria type 1. Liver Transpl. 2013;19(6):646–8. doi:10.1002/lt.23642.
Article
PubMed
Google Scholar
Lorenz EC, Lieske JC, Seide BM, Meek AM, Olson JB, Bergstralh EJ, et al. Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant. Am J Transplant. 2014;14(6):1433–8. doi:10.1111/ajt.12706.
Article
CAS
PubMed
Google Scholar
Hoyer-Kuhn H, Kohbrok S, Volland R, Franklin J, Hero B, Beck BB, et al. Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. Clin J Am Soc Nephrol. 2014;9(3):468–77. doi:10.2215/CJN.06820613.
Article
PubMed Central
PubMed
Google Scholar
Leumann E, Hoppe B, Neuhaus T. Management of primary hyperoxaluria: efficacy of oral citrate administration. Pediatr Nephrol. 1993;7(2):207–11.
Article
CAS
PubMed
Google Scholar