메뉴 건너뛰기




Volumn 86, Issue 4, 2014, Pages 301-309

The kidney in Fabry's disease

Author keywords

Chronic kidney disease; Enzyme replacement therapy; Fabry disease; Fabry nephropathy

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID;

EID: 84908236154     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12386     Document Type: Review
Times cited : (54)

References (91)
  • 1
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
    • Desnick RJ, Brady R, Barranger J et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003: 138: 338-346.
    • (2003) Ann Intern Med , vol.138 , pp. 338-346
    • Desnick, R.J.1    Brady, R.2    Barranger, J.3
  • 2
    • 0029023150 scopus 로고
    • An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    • Nakao S, Takenaka T, Maeda M et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995: 333: 288-293.
    • (1995) N Engl J Med , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3
  • 3
    • 12144287518 scopus 로고    scopus 로고
    • Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
    • Mehta A, Ricci R, Widmer U et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004: 34: 236-242.
    • (2004) Eur J Clin Invest , vol.34 , pp. 236-242
    • Mehta, A.1    Ricci, R.2    Widmer, U.3
  • 4
    • 0025971051 scopus 로고
    • Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of a-galactosidase A
    • NagaoY, Nakashima H, FukuharaYet al. Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of a-galactosidase A. Clin Genet 1991: 39: 233-237.
    • (1991) Clin Genet , vol.39 , pp. 233-237
    • Nagao, Y.1    Nakashima, H.2    Fukuhara, Y.3
  • 5
    • 0036122659 scopus 로고    scopus 로고
    • Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course
    • Branton MH, Schiffmann R, Sabnis SG et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002: 81: 122-138.
    • (2002) Medicine (Baltimore) , vol.81 , pp. 122-138
    • Branton, M.H.1    Schiffmann, R.2    Sabnis, S.G.3
  • 6
    • 44449143398 scopus 로고    scopus 로고
    • Cross-sectional description of patients before treatment with enzyme replacement therapy
    • Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B; Fabry registry. Cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 2008: 23: 1600-1607.
    • (2008) Nephrol Dial Transplant , vol.23 , pp. 1600-1607
    • Ortiz, A.1    Oliveira, J.P.2    Waldek, S.3    Warnock, D.G.4    Cianciaruso, B.5
  • 7
    • 67651123138 scopus 로고    scopus 로고
    • Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
    • Schiffmann R, Warnock DG, Banikazemi M et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009: 24: 2102-2111.
    • (2009) Nephrol Dial Transplant , vol.24 , pp. 2102-2111
    • Schiffmann, R.1    Warnock, D.G.2    Banikazemi, M.3
  • 8
    • 84867897920 scopus 로고    scopus 로고
    • Enzyme replacement therapy in patients with Fabry disease: state of the arte and review of the literature
    • Pisani A, Visciano B, Roux GD et al. Enzyme replacement therapy in patients with Fabry disease: state of the arte and review of the literature. J Inherit Metab 2012: 107: 267-275.
    • (2012) J Inherit Metab , vol.107 , pp. 267-275
    • Pisani, A.1    Visciano, B.2    Roux, G.D.3
  • 10
    • 13444267466 scopus 로고    scopus 로고
    • Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers
    • Linthorst GE, Vedder AC, Aerts JM, Hollak CE. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta 2005: 353: 201-203.
    • (2005) Clin Chim Acta , vol.353 , pp. 201-203
    • Linthorst, G.E.1    Vedder, A.C.2    Aerts, J.M.3    Hollak, C.E.4
  • 11
    • 77749325037 scopus 로고    scopus 로고
    • Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy
    • Mignani R, Ferriozzi S, Schaefer RM et al. Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy. Clin J Am Soc Nephrol 2010: 5: 379-385.
    • (2010) Clin J Am Soc Nephrol , vol.5 , pp. 379-385
    • Mignani, R.1    Ferriozzi, S.2    Schaefer, R.M.3
  • 12
    • 12644253826 scopus 로고    scopus 로고
    • Report on management of renal failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry
    • Tsakiris D, Simpson HK, Jones EH et al. Report on management of renal failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrol Dial Transplant 1996: 11: 4-20.
    • (1996) Nephrol Dial Transplant , vol.11 , pp. 4-20
    • Tsakiris, D.1    Simpson, H.K.2    Jones, E.H.3
  • 13
    • 0036145366 scopus 로고    scopus 로고
    • Patients with Fabry disease on dialysis in the United States
    • Thadhani R, Wolf M, West ML et al. Patients with Fabry disease on dialysis in the United States. Kidney Int 2002: 61: 249-255.
    • (2002) Kidney Int , vol.61 , pp. 249-255
    • Thadhani, R.1    Wolf, M.2    West, M.L.3
  • 14
    • 12444319931 scopus 로고    scopus 로고
    • Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype
    • Nakao S, Kodama C, Takenaka T et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 2003: 64: 801-807.
    • (2003) Kidney Int , vol.64 , pp. 801-807
    • Nakao, S.1    Kodama, C.2    Takenaka, T.3
  • 15
    • 11144355110 scopus 로고    scopus 로고
    • Results of a nationwide screening for Anderson-Fabry disease among dialysis patients
    • Kotanko P, Kramar R, Devrnja D et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004: 15: 1323-1329.
    • (2004) J Am Soc Nephrol , vol.15 , pp. 1323-1329
    • Kotanko, P.1    Kramar, R.2    Devrnja, D.3
  • 17
    • 0000889058 scopus 로고
    • Fabry disease: a-galactosidase A deficiency
    • Scriver CH, Beaudet AL, Sly WS, et al., eds. New York, NY: Mc Graw Hill.
    • Desnick RJ, Ioannou Y, Eng CM. Fabry disease: a-galactosidase A deficiency. In: Scriver CH, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease. New York, NY: Mc Graw Hill, 1995: 2741-2784.
    • (1995) The metabolic and molecular bases of inherited disease , pp. 2741-2784
    • Desnick, R.J.1    Ioannou, Y.2    Eng, C.M.3
  • 18
    • 84861922459 scopus 로고    scopus 로고
    • A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
    • Pisani A, Imbriaco M, Zizzo C et al. A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report. BMC Cardiovasc Disord 2012: 8: 12-39.
    • (2012) BMC Cardiovasc Disord , vol.8 , pp. 12-39
    • Pisani, A.1    Imbriaco, M.2    Zizzo, C.3
  • 19
    • 0034924174 scopus 로고    scopus 로고
    • Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
    • AltarescuGM, Goldfarb LG, ParkKYet al. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 2001: 60: 46-51.
    • (2001) Clin Genet , vol.60 , pp. 46-51
    • Altarescu, G.M.1    Goldfarb, L.G.2    Park, K.Y.3
  • 21
    • 79952192786 scopus 로고    scopus 로고
    • Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease
    • Najafian B, Svarstad E, Bostad L et al. Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int 2011: 79: 663-670.
    • (2011) Kidney Int , vol.79 , pp. 663-670
    • Najafian, B.1    Svarstad, E.2    Bostad, L.3
  • 22
    • 0019427530 scopus 로고
    • Light- and electron-microscopic histochemistry of Fabry's disease
    • Faraggiana T, Churg J, Grishman E. Light- and electron-microscopic histochemistry of Fabry's disease. Am J Pathol 1981: 103: 247-262.
    • (1981) Am J Pathol , vol.103 , pp. 247-262
    • Faraggiana, T.1    Churg, J.2    Grishman, E.3
  • 23
    • 52649095922 scopus 로고    scopus 로고
    • Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy
    • Erratum in: Virchows Arch, 2009; 454: 721-722
    • Valbuena C, Carvalho E, BustorffM et al. Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy. Virchows Arch 2008: 453: 329-338 Erratum in: Virchows Arch, 2009; 454: 721-722.
    • (2008) Virchows Arch , vol.453 , pp. 329-338
    • Valbuena, C.1    Carvalho, E.2    Bustorff, M.3
  • 24
    • 0017872842 scopus 로고
    • Early renal changes in hemizygous and heterozygous patients with Fabry's disease
    • Gubler MC, Lenoir G, Grunfeld JP, Ulmann A, Droz D, Habib R. Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int 1978: 13: 223-235.
    • (1978) Kidney Int , vol.13 , pp. 223-235
    • Gubler, M.C.1    Lenoir, G.2    Grunfeld, J.P.3    Ulmann, A.4    Droz, D.5    Habib, R.6
  • 26
    • 0035988269 scopus 로고    scopus 로고
    • Renal ultrastructural findings in Anderson- Fabry disease
    • Sessa A, Tosoni A, Nebuloni M et al. Renal ultrastructural findings in Anderson- Fabry disease. J Nephrol 2002: 15: 109-112.
    • (2002) J Nephrol , vol.15 , pp. 109-112
    • Sessa, A.1    Tosoni, A.2    Nebuloni, M.3
  • 27
    • 29944434714 scopus 로고    scopus 로고
    • Atteinte renale de la maladie de Fabry: resultats de l'enzymotherapie
    • Grunfeld JP, Noel LH. Atteinte renale de la maladie de Fabry: resultats de l'enzymotherapie. Med Sci 2005: 21: 23-25.
    • (2005) Med Sci , vol.21 , pp. 23-25
    • Grunfeld, J.P.1    Noel, L.H.2
  • 29
    • 0037343474 scopus 로고    scopus 로고
    • Chloroquine induced phospholipidosisof the kidneymimicking Fabry's disease: case report and review of the literature
    • Muller-Hocker J, Schmid H, Weiss M, Dendorfer U, Braun GS. Chloroquine induced phospholipidosisof the kidneymimicking Fabry's disease: case report and review of the literature. Hum Pathol 2003: 34: 285-289.
    • (2003) Hum Pathol , vol.34 , pp. 285-289
    • Muller-Hocker, J.1    Schmid, H.2    Weiss, M.3    Dendorfer, U.4    Braun, G.S.5
  • 30
    • 84868523656 scopus 로고    scopus 로고
    • Renal biopsies in Fabry disease: a multicenter French study
    • Noel LH, Laurent B, Grunfeld JP. Renal biopsies in Fabry disease: a multicenter French study. Nephrol Ther 2012: 8: 433-438.
    • (2012) Nephrol Ther , vol.8 , pp. 433-438
    • Noel, L.H.1    Laurent, B.2    Grunfeld, J.P.3
  • 32
    • 0021985969 scopus 로고
    • Concentric lamellar spheres in urine from a female carrier of and patients with Fabry's disease - with special reference to polarization and electron microscopic comparison with nephrotic syndrome
    • Nagao S, Satoh N, Inaba S, Iijima S. Concentric lamellar spheres in urine from a female carrier of and patients with Fabry's disease - with special reference to polarization and electron microscopic comparison with nephrotic syndrome. J Dermatol 1985: 12: 70-78.
    • (1985) J Dermatol , vol.12 , pp. 70-78
    • Nagao, S.1    Satoh, N.2    Inaba, S.3    Iijima, S.4
  • 33
    • 0021240035 scopus 로고
    • Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease
    • Chatterjee S, Gupta P, Pyeritz RE, Kwiterovich PO Jr. Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease. Am J Clin Pathol 1984: 82: 24-28.
    • (1984) Am J Clin Pathol , vol.82 , pp. 24-28
    • Chatterjee, S.1    Gupta, P.2    Pyeritz, R.E.3    Kwiterovich Jr., P.O.4
  • 34
    • 24044501939 scopus 로고    scopus 로고
    • Enzyme replacement therapy for Fabry disease: morphologic and histochemical changes in the urinary sediments
    • Utsumi K, Mitsuhashi F, Asahi K et al. Enzyme replacement therapy for Fabry disease: morphologic and histochemical changes in the urinary sediments. Clin Chim Acta 2005: 360: 103-107.
    • (2005) Clin Chim Acta , vol.360 , pp. 103-107
    • Utsumi, K.1    Mitsuhashi, F.2    Asahi, K.3
  • 35
    • 67649668920 scopus 로고    scopus 로고
    • Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months
    • Barr C, Clarke JT, Ntwari A, Drouin R, Auray-Blais C. Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months. Mol Genet Metab 2009: 97: 278-283.
    • (2009) Mol Genet Metab , vol.97 , pp. 278-283
    • Barr, C.1    Clarke, J.T.2    Ntwari, A.3    Drouin, R.4    Auray-Blais, C.5
  • 36
    • 38849109999 scopus 로고    scopus 로고
    • Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
    • Auray-Blais C, Cyr D, Ntwari A et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab 2008: 93: 331-340.
    • (2008) Mol Genet Metab , vol.93 , pp. 331-340
    • Auray-Blais, C.1    Cyr, D.2    Ntwari, A.3
  • 37
    • 16844377475 scopus 로고    scopus 로고
    • Is globotriaosylceramide a useful biomarker in Fabry disease?
    • Young E, Mills K, Morris P et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl 2005: 94: 51-54.
    • (2005) Acta Paediatr Suppl , vol.94 , pp. 51-54
    • Young, E.1    Mills, K.2    Morris, P.3
  • 38
    • 79952277670 scopus 로고    scopus 로고
    • Fabry disease: perspectives of urinary proteomics
    • Cuccurullo M, Beneduci A, Anand S et al. Fabry disease: perspectives of urinary proteomics. J Nephrol 2010: 23: 199-212.
    • (2010) J Nephrol , vol.23 , pp. 199-212
    • Cuccurullo, M.1    Beneduci, A.2    Anand, S.3
  • 39
    • 78650371014 scopus 로고    scopus 로고
    • Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry
    • Wanner C, Oliveira JP, Ortiz A et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol 2010: 5: 2220-2228.
    • (2010) Clin J Am Soc Nephrol , vol.5 , pp. 2220-2228
    • Wanner, C.1    Oliveira, J.P.2    Ortiz, A.3
  • 40
    • 32444451549 scopus 로고    scopus 로고
    • Mechanisms of progression and regression of renal lesions of chronic nephropathies and diabetes
    • Remuzzi G, Benigni A, Remuzzi A. Mechanisms of progression and regression of renal lesions of chronic nephropathies and diabetes. J Clin Invest 2006: 116: 288-296.
    • (2006) J Clin Invest , vol.116 , pp. 288-296
    • Remuzzi, G.1    Benigni, A.2    Remuzzi, A.3
  • 41
    • 33750581928 scopus 로고    scopus 로고
    • Predicting initiation and progression of chronic kidney disease: developing renal risk scores
    • Taal MW, Brenner BM. Predicting initiation and progression of chronic kidney disease: developing renal risk scores. Kidney Int 2006: 70: 1694-1705.
    • (2006) Kidney Int , vol.70 , pp. 1694-1705
    • Taal, M.W.1    Brenner, B.M.2
  • 42
    • 33748746594 scopus 로고    scopus 로고
    • Fabry disease: guidelines for the evaluation and management of multiorgan system involvement
    • Eng CM, Germain DP, Banikazemi M et al. Fabry disease: guidelines for the evaluation and management of multiorgan system involvement. Genet Med 2006: 8: 539-548.
    • (2006) Genet Med , vol.8 , pp. 539-548
    • Eng, C.M.1    Germain, D.P.2    Banikazemi, M.3
  • 43
    • 33746318436 scopus 로고    scopus 로고
    • Prevalence of uncontrolled hypertension in patients with Fabry disease
    • Kleinert J, Dehout F, Schwarting A et al. Prevalence of uncontrolled hypertension in patients with Fabry disease. Am J Hypertens 2006: 19 (8): 782-787.
    • (2006) Am J Hypertens , vol.19 , Issue.8 , pp. 782-787
    • Kleinert, J.1    Dehout, F.2    Schwarting, A.3
  • 44
    • 33645218156 scopus 로고    scopus 로고
    • Comparison of the effects of agalsidase alpha and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice
    • Sakuraba H, Murata-Ohsawa M, Kawashima I et al. Comparison of the effects of agalsidase alpha and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice. J Hum Genet 2006: 51: 180-188.
    • (2006) J Hum Genet , vol.51 , pp. 180-188
    • Sakuraba, H.1    Murata-Ohsawa, M.2    Kawashima, I.3
  • 45
    • 0013192938 scopus 로고    scopus 로고
    • A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease
    • Lee K, Jin X, Zhang K et al. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 2003: 13: 305-313.
    • (2003) Glycobiology , vol.13 , pp. 305-313
    • Lee, K.1    Jin, X.2    Zhang, K.3
  • 46
    • 33846908304 scopus 로고    scopus 로고
    • Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
    • Banikazemi M, Bultas J, Waldek S et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007: 146: 77-86.
    • (2007) Ann Intern Med , vol.146 , pp. 77-86
    • Banikazemi, M.1    Bultas, J.2    Waldek, S.3
  • 47
    • 12944265457 scopus 로고    scopus 로고
    • Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
    • Schiffmann R, Murray GJ, Treco D et al. Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci 2000: 97: 365-370.
    • (2000) Proc Natl Acad Sci , vol.97 , pp. 365-370
    • Schiffmann, R.1    Murray, G.J.2    Treco, D.3
  • 48
    • 77952118055 scopus 로고    scopus 로고
    • Accessed on September 30
    • European Medicines Agency. Fabrazyme®-summary of product characteristics, from http://www.emea.europa.eu/humandocs/Humans/EPAR/fabrazyme/fabrazyme.htm. Accessed on September 30, 2009.
    • (2009) Fabrazyme®-summary of product characteristics
  • 49
    • 77952118055 scopus 로고    scopus 로고
    • Accessed on September 30
    • European Medicines Agency. Replagal®-summary of product characteristics, from http://www.emea.europa.eu/humandocs/Humans/EPAR/replagal/replagal.htm. Accessed on September 30, 2009.
    • (2009) Replagal®-summary of product characteristics
  • 51
    • 0035816007 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: a randomized controlled trial
    • Schiffmann R, Kopp JB, Austin HA 3rd et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA2001: 285: 2743-2749.
    • (2001) JAMA , vol.285 , pp. 2743-2749
    • Schiffmann, R.1    Kopp, J.B.2    Austin III, H.A.3
  • 52
    • 71649111830 scopus 로고    scopus 로고
    • Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
    • Mehta A, Beck M, Elliott P et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009: 374: 1986-1996.
    • (2009) Lancet , vol.374 , pp. 1986-1996
    • Mehta, A.1    Beck, M.2    Elliott, P.3
  • 53
    • 65649096032 scopus 로고    scopus 로고
    • Agalsidase alfa and kidney dysfunction in Fabry disease
    • West M, Nicholls K, Mehta A et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 2009: 20: 1132-1139.
    • (2009) J Am Soc Nephrol , vol.20 , pp. 1132-1139
    • West, M.1    Nicholls, K.2    Mehta, A.3
  • 54
    • 84857082168 scopus 로고    scopus 로고
    • The effectiveness of long-term agalsidase alpha therapy in the treatment of Fabry nephropathy
    • Feriozzi S, Torras J, Cybulla M et al. The effectiveness of long-term agalsidase alpha therapy in the treatment of Fabry nephropathy. Clin J Am Soc Nephrol 2012: 7: 60-69.
    • (2012) Clin J Am Soc Nephrol , vol.7 , pp. 60-69
    • Feriozzi, S.1    Torras, J.2    Cybulla, M.3
  • 55
    • 77955878746 scopus 로고    scopus 로고
    • Fabry disease: a review of current management strategies
    • Mehta A, Beck M, Eyskens F et al. Fabry disease: a review of current management strategies. QJM 2010: 103: 641-659.
    • (2010) QJM , vol.103 , pp. 641-659
    • Mehta, A.1    Beck, M.2    Eyskens, F.3
  • 56
    • 19944375153 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study
    • Eto Y, Ohashi T, Utsunomiya Y et al. Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study. J Inherit Metab Dis 2005: 28: 575-583.
    • (2005) J Inherit Metab Dis , vol.28 , pp. 575-583
    • Eto, Y.1    Ohashi, T.2    Utsunomiya, Y.3
  • 57
    • 33645528253 scopus 로고    scopus 로고
    • Clinical benefit of enzyme replacement therapy in Fabry disease
    • Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 2006: 69: 1216-1221.
    • (2006) Kidney Int , vol.69 , pp. 1216-1221
    • Breunig, F.1    Weidemann, F.2    Strotmann, J.3    Knoll, A.4    Wanner, C.5
  • 58
    • 34248190164 scopus 로고    scopus 로고
    • Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
    • Germain DP, Waldek S, Banikazemi M et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007: 18: 1547-1557.
    • (2007) J Am Soc Nephrol , vol.18 , pp. 1547-1557
    • Germain, D.P.1    Waldek, S.2    Banikazemi, M.3
  • 59
    • 34548474768 scopus 로고    scopus 로고
    • Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta
    • Tahir H, Jackson LL, Warnock DG. Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 2007: 18: 2609-2617.
    • (2007) J Am Soc Nephrol , vol.18 , pp. 2609-2617
    • Tahir, H.1    Jackson, L.L.2    Warnock, D.G.3
  • 61
    • 77954321307 scopus 로고    scopus 로고
    • Scoring system for renal pathology in Fabry disease: Report of the International Study Group of Fabry Nephropathy (ISGFN)
    • Fogo AB, Bostad L, Svarstad E et al., all members of the International Study Group of Fabry Nephropathy (ISGFN). Scoring system for renal pathology in Fabry disease: Report of the International Study Group of Fabry Nephropathy (ISGFN). Nephrol Dial Transplant 2010: 25: 2168-2177.
    • (2010) Nephrol Dial Transplant , vol.25 , pp. 2168-2177
    • Fogo, A.B.1    Bostad, L.2    Svarstad, E.3
  • 62
    • 20844448872 scopus 로고    scopus 로고
    • Monitoring enzyme replacement therapy in Fabry disease - role of urine globotriaosylceramide
    • Whitfield P, Calvin J, Hogg S et al. Monitoring enzyme replacement therapy in Fabry disease - role of urine globotriaosylceramide. J Inherit Metab Dis 2005: 28: 21-33.
    • (2005) J Inherit Metab Dis , vol.28 , pp. 21-33
    • Whitfield, P.1    Calvin, J.2    Hogg, S.3
  • 63
    • 43049092306 scopus 로고    scopus 로고
    • Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria
    • Erratum in: Am J Kid Dis, 2009; 53: 567
    • Tøndel C, Bostad L, Hirth A, Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 2008: 51: 767-776 Erratum in: Am J Kid Dis, 2009; 53: 567.
    • (2008) Am J Kidney Dis , vol.51 , pp. 767-776
    • Tøndel, C.1    Bostad, L.2    Hirth, A.3    Svarstad, E.4
  • 64
    • 70349316414 scopus 로고    scopus 로고
    • Evaluation of a lowdose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease
    • Lubanda JC, Anijalg E, Bzdúch V, Thurberg BL, Bénichou B, Tylki-Syzmanska A. Evaluation of a lowdose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease. Genet Med 2009: 11: 256-264.
    • (2009) Genet Med , vol.11 , pp. 256-264
    • Lubanda, J.C.1    Anijalg, E.2    Bzdúch, V.3    Thurberg, B.L.4    Bénichou, B.5    Tylki-Syzmanska, A.6
  • 65
    • 84871906107 scopus 로고    scopus 로고
    • Agalsidase benefits renal histology in young patients with Fabry disease
    • Tondel C, Bostad L, Kampevold Larsen K et al. Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 2013: 24: 137-148.
    • (2013) J Am Soc Nephrol , vol.24 , pp. 137-148
    • Tondel, C.1    Bostad, L.2    Kampevold Larsen, K.3
  • 66
    • 16844386788 scopus 로고    scopus 로고
    • Measurement of renal function in patients with Fabry disease
    • Kleinert J, Lorenz M, Hauser AC et al. Measurement of renal function in patients with Fabry disease. Acta Paediatr Suppl 2005: 94: 19-23.
    • (2005) Acta Paediatr Suppl , vol.94 , pp. 19-23
    • Kleinert, J.1    Lorenz, M.2    Hauser, A.C.3
  • 67
    • 36049043705 scopus 로고    scopus 로고
    • Cystatin C as a marker of early changes of renal function in Fabry nephropathy
    • Feriozzi S, Germain DP, Di Vito R, Legrand A, Ricci R, Barbey F. Cystatin C as a marker of early changes of renal function in Fabry nephropathy. J Nephrol 2007: 20: 437-443.
    • (2007) J Nephrol , vol.20 , pp. 437-443
    • Feriozzi, S.1    Germain, D.P.2    Di Vito, R.3    Legrand, A.4    Ricci, R.5    Barbey, F.6
  • 68
    • 77954801038 scopus 로고    scopus 로고
    • The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patientswith Fabry disease
    • Rombach SM, Baas MC, ten Berge IJ, Krediet RT, Bremelman FJ, Hollak CE. The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patientswith Fabry disease. Nephrol Dial Transplant 2010: 25: 2549-2556.
    • (2010) Nephrol Dial Transplant , vol.25 , pp. 2549-2556
    • Rombach, S.M.1    Baas, M.C.2    ten Berge, I.J.3    Krediet, R.T.4    Bremelman, F.J.5    Hollak, C.E.6
  • 69
    • 33847327950 scopus 로고    scopus 로고
    • Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities
    • Moore DF, Krokhin OV, Bravis RC et al. Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities. Proc Natl Acad Sci USA 2007: 104: 2873-2878.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 2873-2878
    • Moore, D.F.1    Krokhin, O.V.2    Bravis, R.C.3
  • 70
    • 0035912555 scopus 로고    scopus 로고
    • Progression, remission, regression of chronic renal diseases
    • Ruggenenti P, Schieppati A, Remuzzi G. Progression, remission, regression of chronic renal diseases. Lancet 2001: 357: 1601-1608.
    • (2001) Lancet , vol.357 , pp. 1601-1608
    • Ruggenenti, P.1    Schieppati, A.2    Remuzzi, G.3
  • 71
    • 78651348512 scopus 로고    scopus 로고
    • ACE activity is modulated by the enzyme α-galactosidase A
    • Batista EC, Carvalho LR, Casarini DE et al. ACE activity is modulated by the enzyme α-galactosidase A. J Mol Med 2010: 89: 65-74.
    • (2010) J Mol Med , vol.89 , pp. 65-74
    • Batista, E.C.1    Carvalho, L.R.2    Casarini, D.E.3
  • 72
    • 68949114585 scopus 로고    scopus 로고
    • KDIGO clinical practice guideline for the diagnosis, evaluation, prevention, and treatment of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD)
    • Kidney Disease: Improving Global Outcomes (KDIGO) CKD-MBD Work Group. KDIGO clinical practice guideline for the diagnosis, evaluation, prevention, and treatment of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD). Kidney Int Suppl 2009: 1-130.
    • (2009) Kidney Int Suppl , pp. 1-130
  • 73
    • 73249129568 scopus 로고    scopus 로고
    • Vitamin D, proteinuria, diabetic nephropathy, and progression of CKD
    • Agarwal R. Vitamin D, proteinuria, diabetic nephropathy, and progression of CKD. Clin J Am Soc Nephrol 2009: 4: 1523-1528.
    • (2009) Clin J Am Soc Nephrol , vol.4 , pp. 1523-1528
    • Agarwal, R.1
  • 74
    • 78149359262 scopus 로고    scopus 로고
    • Selective vitamin D receptor activation with paricalcitol for reduction of albuminuria in patients with type 2 diabetes (VITAL study): a randomised controlled trial
    • de Zeeuw D, Agarwal R, Amdahl M et al. Selective vitamin D receptor activation with paricalcitol for reduction of albuminuria in patients with type 2 diabetes (VITAL study): a randomised controlled trial. Lancet 2010: 376: 1543-1551.
    • (2010) Lancet , vol.376 , pp. 1543-1551
    • de Zeeuw, D.1    Agarwal, R.2    Amdahl, M.3
  • 75
    • 79958165587 scopus 로고    scopus 로고
    • Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy
    • Sanchez-Niño MD, Sanz AB, Carrasco S et al. Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol Dial Transplant 2011: 26: 1797-1802.
    • (2011) Nephrol Dial Transplant , vol.26 , pp. 1797-1802
    • Sanchez-Niño, M.D.1    Sanz, A.B.2    Carrasco, S.3
  • 76
    • 77649223876 scopus 로고    scopus 로고
    • End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry
    • Ortiz A, Cianciaruso B, Cizmarik M et al. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry. Nephrol Dial Transplant 2010: 25: 769-775.
    • (2010) Nephrol Dial Transplant , vol.25 , pp. 769-775
    • Ortiz, A.1    Cianciaruso, B.2    Cizmarik, M.3
  • 77
    • 34547830275 scopus 로고    scopus 로고
    • Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease
    • Pastores GM, Boyd E, Crandall K, Whelan A, Piersall L, Barnett N. Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease. Nephrol Dial Transplant 2007: 22: 1920-1925.
    • (2007) Nephrol Dial Transplant , vol.22 , pp. 1920-1925
    • Pastores, G.M.1    Boyd, E.2    Crandall, K.3    Whelan, A.4    Piersall, L.5    Barnett, N.6
  • 78
    • 4344671895 scopus 로고    scopus 로고
    • Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease
    • Kosch M, Koch HG, Oliveira JP et al. Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease. Kidney Int 2004: 66: 1279-1282.
    • (2004) Kidney Int , vol.66 , pp. 1279-1282
    • Kosch, M.1    Koch, H.G.2    Oliveira, J.P.3
  • 79
    • 20544452974 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement
    • Pisani A, Spinelli L, Sabbatini M et al. Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement. Am J Kidney Dis 2005: 46: 120-127.
    • (2005) Am J Kidney Dis , vol.46 , pp. 120-127
    • Pisani, A.1    Spinelli, L.2    Sabbatini, M.3
  • 80
    • 44449157135 scopus 로고    scopus 로고
    • Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy
    • Mignani R, Feriozzi S, Pisani A et al. Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy. Nephrol Dial Transplant 2008: 23: 1628-1635.
    • (2008) Nephrol Dial Transplant , vol.23 , pp. 1628-1635
    • Mignani, R.1    Feriozzi, S.2    Pisani, A.3
  • 81
    • 68949096710 scopus 로고    scopus 로고
    • Cerebrovascular disease incidence, characteristics, and outcomes in patients initiating dialysis: the choices for healthy outcomes in caring for ESRD (CHOICE) study
    • Sozio SM, Armstrong PA, Coresh J et al. Cerebrovascular disease incidence, characteristics, and outcomes in patients initiating dialysis: the choices for healthy outcomes in caring for ESRD (CHOICE) study. Am J Kidney Dis 2009: 54: 468-477.
    • (2009) Am J Kidney Dis , vol.54 , pp. 468-477
    • Sozio, S.M.1    Armstrong, P.A.2    Coresh, J.3
  • 82
    • 61349177862 scopus 로고    scopus 로고
    • Longterm effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment
    • Weidemann F, Niemann M, Breunig F et al. Longterm effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 2009: 119: 524-529.
    • (2009) Circulation , vol.119 , pp. 524-529
    • Weidemann, F.1    Niemann, M.2    Breunig, F.3
  • 84
    • 61849104776 scopus 로고    scopus 로고
    • Kidney transplantation in patients with Fabry disease
    • Cybulla M, Walter KN, Schwarting A et al. Kidney transplantation in patients with Fabry disease. Transpl Int 2009: 22: 475-481.
    • (2009) Transpl Int , vol.22 , pp. 475-481
    • Cybulla, M.1    Walter, K.N.2    Schwarting, A.3
  • 85
    • 0035537930 scopus 로고    scopus 로고
    • Long-term survival of patients with renal transplantation in Fabry's disease
    • Mignani R, Gerra D, Maldini L et al. Long-term survival of patients with renal transplantation in Fabry's disease. Contrib Nephrol. 2001: 136: 229-233.
    • (2001) Contrib Nephrol. , vol.136 , pp. 229-233
    • Mignani, R.1    Gerra, D.2    Maldini, L.3
  • 88
    • 0036147094 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry's disease, an inherited nephropathy
    • Desnik RJ, Banikazemi M, Wassertein M. Enzyme replacement therapy in Fabry's disease, an inherited nephropathy. Clin Nephrol 2002: 57: 1-8.
    • (2002) Clin Nephrol , vol.57 , pp. 1-8
    • Desnik, R.J.1    Banikazemi, M.2    Wassertein, M.3
  • 89
    • 0025778554 scopus 로고
    • Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation
    • Mosnier JF, Degott C, Bedrossian J et al. Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation. Transplantation 1991: 51: 759-762.
    • (1991) Transplantation , vol.51 , pp. 759-762
    • Mosnier, J.F.1    Degott, C.2    Bedrossian, J.3
  • 90
    • 0029879239 scopus 로고    scopus 로고
    • Is there true recurrence of Fabry's disease in the transplanted kidney?
    • Peces R. Is there true recurrence of Fabry's disease in the transplanted kidney? Nephrol Dial Transplant 1996: 11: 561.
    • (1996) Nephrol Dial Transplant , vol.11 , pp. 561
    • Peces, R.1
  • 91
    • 54949106603 scopus 로고    scopus 로고
    • Agalsidase alfa slows the decline in renal function in patients with Fabry disease
    • Feriozzi S, Schwarting A, Sunder-Plassmann G, West M, Cybulla M. Agalsidase alfa slows the decline in renal function in patients with Fabry disease. Am. J. Nephrol 2009: 29 (5): 353-361.
    • (2009) Am. J. Nephrol , vol.29 , Issue.5 , pp. 353-361
    • Feriozzi, S.1    Schwarting, A.2    Sunder-Plassmann, G.3    West, M.4    Cybulla, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.