메뉴 건너뛰기




Volumn 21, Issue 8, 2006, Pages 1075-1081

Primary hyperoxaluria type 1: Still challenging!

Author keywords

Alanine: Glyoxylate aminotransferase; Combined liver kidney transplantation; Dialysis; Liver transplantation; Oxalate; Oxalosis; Primary hyperoxaluria type 1; Urolithiasis

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE; CALCIUM OXALATE; CITRATE POTASSIUM; CITRATE SODIUM; CITRIC ACID; FUROSEMIDE; GLYCOLIC ACID; OXALIC ACID; PHOSPHATE; PROBIOTIC AGENT; PYRIDOXAMINE; PYRIDOXINE; THIAZIDE DIURETIC AGENT;

EID: 33746144049     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0124-4     Document Type: Review
Times cited : (120)

References (43)
  • 1
    • 0028877142 scopus 로고
    • Epidemiology of primary hyperoxaluria type 1
    • on behalf of the Société de Néphrologie and the Société de Néphrologie Pédiatrique
    • Cochat P, Deloraine A, Rotily M, Olive F, Liponski I, Deries N, on behalf of the Société de Néphrologie and the Société de Néphrologie Pédiatrique (1995) Epidemiology of primary hyperoxaluria type 1. Nephrol Dial Transplant 10 [Suppl 8]:3-7
    • (1995) Nephrol Dial Transplant , vol.10 , Issue.SUPPL. 8 , pp. 3-7
    • Cochat, P.1    Deloraine, A.2    Rotily, M.3    Olive, F.4    Liponski, I.5    Deries, N.6
  • 3
    • 4444302566 scopus 로고    scopus 로고
    • End-stage renal disease in Kuwaiti children: An 8-year experience
    • Al-Eisa AA, Samhan M, Naseef M (2004) End-stage renal disease in Kuwaiti children: An 8-year experience. Transplant Proc 36:1788-1791
    • (2004) Transplant Proc , vol.36 , pp. 1788-1791
    • Al-Eisa, A.A.1    Samhan, M.2    Naseef, M.3
  • 4
    • 0029785645 scopus 로고    scopus 로고
    • End-stage renal disease of the Tunisian child: Epidemiology, etiologies and outcome
    • Kamoun A, Lakhoua R (1996) End-stage renal disease of the Tunisian child: Epidemiology, etiologies and outcome. Pediatr Nephrol 10:479-482
    • (1996) Pediatr Nephrol , vol.10 , pp. 479-482
    • Kamoun, A.1    Lakhoua, R.2
  • 6
    • 0344584343 scopus 로고    scopus 로고
    • One hundred percent patient and kidney allograft survival with simultaneous liver and kidney transplantation in infants with primary hyperoxaluria: A single-center experience
    • Millan MT, Berquist WE, So SK, Sarwal MM, Wayman KI, Cox KL, Filler G, Salvatierra O Jr, Esquivel CO (2003) One hundred percent patient and kidney allograft survival with simultaneous liver and kidney transplantation in infants with primary hyperoxaluria: A single-center experience. Transplantation 76:1458-1463
    • (2003) Transplantation , vol.76 , pp. 1458-1463
    • Millan, M.T.1    Berquist, W.E.2    So, S.K.3    Sarwal, M.M.4    Wayman, K.I.5    Cox, K.L.6    Filler, G.7    Salvatierra Jr., O.8    Esquivel, C.O.9
  • 7
    • 30144440100 scopus 로고    scopus 로고
    • The primary hyperoxalurias
    • Davison AM, Cameron JS, Grünfeld JP, Ponticelli C, Ritz E, Winearls CG, van Ypersele C (eds) (3rd edn). Oxford University Press, Oxford
    • Cochat P, Rolland MO (2005) The primary hyperoxalurias. In: Davison AM, Cameron JS, Grünfeld JP, Ponticelli C, Ritz E, Winearls CG, van Ypersele C (eds) Oxford textbook of clinical nephrology (3rd edn). Oxford University Press, Oxford, pp 2374-2380
    • (2005) Oxford Textbook of Clinical Nephrology , pp. 2374-2380
    • Cochat, P.1    Rolland, M.O.2
  • 8
    • 23944518940 scopus 로고    scopus 로고
    • Molecular etiology of primary hyperoxaluria type 1: New directions for treatment
    • Danpure CJ (2005) Molecular etiology of primary hyperoxaluria type 1: new directions for treatment. Am J Nephrol 25:303-310
    • (2005) Am J Nephrol , vol.25 , pp. 303-310
    • Danpure, C.J.1
  • 9
    • 7544222935 scopus 로고    scopus 로고
    • Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi
    • Daudon M, Jungers P (2004) Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi. Nephron Physiol 98:31-36
    • (2004) Nephron Physiol , vol.98 , pp. 31-36
    • Daudon, M.1    Jungers, P.2
  • 10
    • 0347135846 scopus 로고    scopus 로고
    • Diagnosis of primary hyperoxaluria type 1 by determination of peritoneal dialysate glycolic acid using standard organic-acids analysis method
    • Wong PN, Law ELK, Tong GMW, Mak SK, Lo KY, Wong AKM (2003) Diagnosis of primary hyperoxaluria type 1 by determination of peritoneal dialysate glycolic acid using standard organic-acids analysis method. Perit Dial Int 23:S210-S213
    • (2003) Perit Dial Int , vol.23
    • Wong, P.N.1    Law, E.L.K.2    Tong, G.M.W.3    Mak, S.K.4    Lo, K.Y.5    Wong, A.K.M.6
  • 11
    • 4744365208 scopus 로고    scopus 로고
    • Genetic heterogeneity in primary hyperoxaluria type 1: Impact on diagnosis
    • Coulter-Mackie MB, Rumsby G (2004) Genetic heterogeneity in primary hyperoxaluria type 1: Impact on diagnosis. Mol Genet Metab 83:38-46
    • (2004) Mol Genet Metab , vol.83 , pp. 38-46
    • Coulter-Mackie, M.B.1    Rumsby, G.2
  • 14
    • 0002426889 scopus 로고
    • Enzymological and molecular genetics of primary hyperoxaluria type 1. Consequences for clinical management
    • Khan SR (ed) CRC Press, Boca Raton
    • Danpure CJ, Rumsby G (1995) Enzymological and molecular genetics of primary hyperoxaluria type 1. Consequences for clinical management. In: Khan SR (ed) Calcium oxalate in biological systems. CRC Press, Boca Raton, pp 189-205
    • (1995) Calcium Oxalate in Biological Systems , pp. 189-205
    • Danpure, C.J.1    Rumsby, G.2
  • 15
    • 21244492032 scopus 로고    scopus 로고
    • Primary hyperoxaluria type 1: Is genotyping clinically helpful?
    • Leumann E, Hoppe B (2005) Primary hyperoxaluria type 1: Is genotyping clinically helpful? Pediatr Nephrol 20:555-557
    • (2005) Pediatr Nephrol , vol.20 , pp. 555-557
    • Leumann, E.1    Hoppe, B.2
  • 16
    • 1942425103 scopus 로고    scopus 로고
    • The major allele of the alanine: Glyoxylate aminotransferase gene: Seven novel mutations causing primary hyperoxaluria
    • Coulter-Mackie MB, Applegarth D, Toone JR, Henderson H (2004) The major allele of the alanine:gLyoxSlate aminotransferase gene: seven novel mutations causing primary hyperoxaluria. Mol Genet Metab 82:64-68
    • (2004) Mol Genet Metab , vol.82 , pp. 64-68
    • Coulter-Mackie, M.B.1    Applegarth, D.2    Toone, J.R.3    Henderson, H.4
  • 17
    • 7544241975 scopus 로고    scopus 로고
    • Molecular aetiology of primary hyperoxaluria type 1
    • Danpure CJ (2004) Molecular aetiology of primary hyperoxaluria type 1. Nephron Exp Nephrol 98:e39-e44
    • (2004) Nephron Exp Nephrol , vol.98
    • Danpure, C.J.1
  • 18
    • 0034680869 scopus 로고    scopus 로고
    • Functional synergism between the most common polymorphism in human alanine: Glyoxylate aminotransferase and four of the most common disease-causing mutations
    • Lumb MJ, Danpure CJ (2000) Functional synergism between the most common polymorphism in human alanine:gLyoxylate aminotransferase and four of the most common disease-causing mutations. J Biol Chem 275:36415-36422
    • (2000) J Biol Chem , vol.275 , pp. 36415-36422
    • Lumb, M.J.1    Danpure, C.J.2
  • 19
    • 0035991408 scopus 로고    scopus 로고
    • Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II
    • Monico CG, Persson M, Ford GC, Rumsby G, Milliner DS (2002) Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II. Kidney Int 62:392-400
    • (2002) Kidney Int , vol.62 , pp. 392-400
    • Monico, C.G.1    Persson, M.2    Ford, G.C.3    Rumsby, G.4    Milliner, D.S.5
  • 21
    • 4344613570 scopus 로고    scopus 로고
    • Evaluation of mutation screening as a first line test for the diagnosis of primary hyperoxaluria
    • Rumsby G, Williams E, Coulter-Mackie M (2004) Evaluation of mutation screening as a first line test for the diagnosis of primary hyperoxaluria. Kidney Int 66:959-96323
    • (2004) Kidney Int , vol.66 , pp. 959-96323
    • Rumsby, G.1    Williams, E.2    Coulter-Mackie, M.3
  • 24
    • 17744370337 scopus 로고    scopus 로고
    • Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele
    • Monico CG, Rossetti S, Olson JB, Milliner DS (2005) Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney Int 67:1704-1709
    • (2005) Kidney Int , vol.67 , pp. 1704-1709
    • Monico, C.G.1    Rossetti, S.2    Olson, J.B.3    Milliner, D.S.4
  • 25
    • 23944489876 scopus 로고    scopus 로고
    • Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype
    • Coulter-Mackie MB (2005) Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype. Am J Nephrol 25:264-268
    • (2005) Am J Nephrol , vol.25 , pp. 264-268
    • Coulter-Mackie, M.B.1
  • 26
    • 0031979310 scopus 로고    scopus 로고
    • Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene
    • von Schnakenburg C, Hulton SA, Milford DV, Roper HP, Rumsby G (1998) Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene. Nephron 78:485-488
    • (1998) Nephron , vol.78 , pp. 485-488
    • von Schnakenburg, C.1    Hulton, S.A.2    Milford, D.V.3    Roper, H.P.4    Rumsby, G.5
  • 27
    • 0034862132 scopus 로고    scopus 로고
    • The primary hyperoxalurias
    • Leumann E, Hoppe B (2001) The primary hyperoxalurias. J Am Soc Nephrol 12:1986-1993
    • (2001) J Am Soc Nephrol , vol.12 , pp. 1986-1993
    • Leumann, E.1    Hoppe, B.2
  • 28
    • 0035170499 scopus 로고    scopus 로고
    • Phenotypic expression of primary hyperoxaluria: Comparative features of types I and II
    • Milliner DS, Wilson DM, Smith LH (2001) Phenotypic expression of primary hyperoxaluria: Comparative features of types I and II. Kidney Int 2001 59:31-36
    • (2001) Kidney Int 2001 , vol.59 , pp. 31-36
    • Milliner, D.S.1    Wilson, D.M.2    Smith, L.H.3
  • 29
    • 0026728657 scopus 로고
    • Oxalate balance studies in patients on hemodialysis for type I primary hyperoxaluria
    • Marangella M, Petrarulo M, Cosseddu D, Vitale C, Linari F (1992) Oxalate balance studies in patients on hemodialysis for type I primary hyperoxaluria. Am J Kidney Dis 19:546-553
    • (1992) Am J Kidney Dis , vol.19 , pp. 546-553
    • Marangella, M.1    Petrarulo, M.2    Cosseddu, D.3    Vitale, C.4    Linari, F.5
  • 30
    • 0033059461 scopus 로고    scopus 로고
    • Plasma calcium oxalate super saturation in children with primary hyperoxaluria and end-stage renal failure
    • Hoppe B, Kemper MJ, Bokenkamp A, Portale A, Cohn R, Langman C (1999) Plasma calcium oxalate super saturation in children with primary hyperoxaluria and end-stage renal failure. Kidney Int 56:268-274
    • (1999) Kidney Int , vol.56 , pp. 268-274
    • Hoppe, B.1    Kemper, M.J.2    Bokenkamp, A.3    Portale, A.4    Cohn, R.5    Langman, C.6
  • 31
    • 0035210488 scopus 로고    scopus 로고
    • Oxalate removal by daily dialysis in a patient with primary hyperoxaluria type 1
    • Yamauchi T, Quillard M, Takahasi S, Nguyen-Khoa M (2001) Oxalate removal by daily dialysis in a patient with primary hyperoxaluria type 1. Nephrol Dial Transplant 16:2407-2411
    • (2001) Nephrol Dial Transplant , vol.16 , pp. 2407-2411
    • Yamauchi, T.1    Quillard, M.2    Takahasi, S.3    Nguyen-Khoa, M.4
  • 32
    • 0021240143 scopus 로고
    • Successful strategies for renal transplantation in primary oxalosis
    • Scheinman JI, Najarian JS, Mauer SM (1984) Successful strategies for renal transplantation in primary oxalosis. Kidney Int 25:804-811
    • (1984) Kidney Int , vol.25 , pp. 804-811
    • Scheinman, J.I.1    Najarian, J.S.2    Mauer, S.M.3
  • 35
    • 23944502312 scopus 로고    scopus 로고
    • A 20-year experience of combined liver/kidney transplantation for primary hyperoxaluria (PH1): The European PH1 transplant registry experience 1984-2004
    • Jamieson NV (2005) A 20-year experience of combined liver/kidney transplantation for primary hyperoxaluria (PH1): The European PH1 transplant registry experience 1984-2004. Am J Nephrol 25:282-289
    • (2005) Am J Nephrol , vol.25 , pp. 282-289
    • Jamieson, N.V.1
  • 36
    • 0027406820 scopus 로고
    • Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type 1?
    • Cochat P, Schärer K (1993) Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type 1? Pediatr Nephrol 7:212-218
    • (1993) Pediatr Nephrol , vol.7 , pp. 212-218
    • Cochat, P.1    Schärer, K.2
  • 37
    • 28644448951 scopus 로고    scopus 로고
    • The role of preemptive liver transplantation in primary hyperoxaluria type 1
    • Kemper MJ (2005) The role of preemptive liver transplantation in primary hyperoxaluria type 1. Urol Res 33:376-379
    • (2005) Urol Res , vol.33 , pp. 376-379
    • Kemper, M.J.1
  • 40
    • 0032569512 scopus 로고    scopus 로고
    • Absence of Oxalobacter formigenes in cystic fibrosis patients: A risk factor for hyperoxaluria
    • Sidhu H, Hoppe B, Hesse A, Tenbrock K, Bromme S, Rietschel E, Peck AB (1998) Absence of Oxalobacter formigenes in cystic fibrosis patients: A risk factor for hyperoxaluria. Lancet 352:1026-1029
    • (1998) Lancet , vol.352 , pp. 1026-1029
    • Sidhu, H.1    Hoppe, B.2    Hesse, A.3    Tenbrock, K.4    Bromme, S.5    Rietschel, E.6    Peck, A.B.7
  • 41
    • 10944220190 scopus 로고    scopus 로고
    • Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: A potential therapy for primary hyperoxaluria
    • Chetyrkin SV, Kim D, Belmont JM, Scheinman JI, Hudson BG, Voziyan PA (2004) Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: A potential therapy for primary hyperoxaluria. Kidney Int 67:53-60
    • (2004) Kidney Int , vol.67 , pp. 53-60
    • Chetyrkin, S.V.1    Kim, D.2    Belmont, J.M.3    Scheinman, J.I.4    Hudson, B.G.5    Voziyan, P.A.6
  • 42
    • 26444485692 scopus 로고    scopus 로고
    • Primary hyperoxaluria: From gene defects to designer drugs?
    • Danpure CJ (2005) Primary hyperoxaluria: From gene defects to designer drugs? Nephrol Dial Transplant 20:1525-1529
    • (2005) Nephrol Dial Transplant , vol.20 , pp. 1525-1529
    • Danpure, C.J.1
  • 43
    • 20844455926 scopus 로고    scopus 로고
    • Cellular transfection to deliver alanine-glyoxylate aminotransferase to hepatocytes: A rational gene therapy for primary hyperoxaluria-1 (PH-1)
    • Koul S, Johnson T, Pramanik S, Koul H (2005) Cellular transfection to deliver alanine-glyoxylate aminotransferase to hepatocytes: A rational gene therapy for primary hyperoxaluria-1 (PH-1). Am J Nephrol 25:176-182
    • (2005) Am J Nephrol , vol.25 , pp. 176-182
    • Koul, S.1    Johnson, T.2    Pramanik, S.3    Koul, H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.