메뉴 건너뛰기




Volumn 43, Issue 1, 2004, Pages 164-171

Fabry Disease: Renal Involvement Limited to Podocyte Pathology and Proteinuria in a Septuagenarian Cardiac Variant. Pathologic and Therapeutic Implications

Author keywords

Cardiac variant; Fabry disease; Lysosomal storage disease; Podocyte; Proteinuria; Renal pathology; Ultrastructure; galactosidase A ( Gal A)

Indexed keywords

ALPHA GALACTOSIDASE; CREATININE; GLYCOSPHINGOLIPID;

EID: 0347989591     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2003.09.022     Document Type: Article
Times cited : (43)

References (40)
  • 2
    • 0014964372 scopus 로고
    • Fabry disease: α-Galactosidase deficiency
    • Klint JA: Fabry disease: α-Galactosidase deficiency. Science 167:1268-1269, 1970
    • (1970) Science , vol.167 , pp. 1268-1269
    • Klint, J.A.1
  • 3
    • 0000889058 scopus 로고    scopus 로고
    • α-galactosidase A deficiency: Fabry disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds). New York, NY, McGraw-Hill
    • Desnick RJ, Ioannou YA, Eng CM: α-Galactosidase A deficiency: Fabry disease, in Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds): The Metabolic and Molecular Bases of Inherited Disease (ed 8). New York, NY, McGraw-Hill, 2001, pp 3733-3774
    • (2001) The Metabolic and Molecular Bases of Inherited Disease (Ed 8) , pp. 3733-3774
    • Desnick, R.J.1    Ioannou, Y.A.2    Eng, C.M.3
  • 4
    • 0001190230 scopus 로고
    • A morphological study of the renal lesion in angiokeratoma corporis diffusum universale (Fabry's disease)
    • McNary W, Lowenstein L: A morphological study of the renal lesion in angiokeratoma corporis diffusum universale (Fabry's disease). J Urol 93:641, 1965
    • (1965) J Urol , vol.93 , pp. 641
    • McNary, W.1    Lowenstein, L.2
  • 5
    • 0015867775 scopus 로고
    • Renal pathologic lesions and functional alterations in a man with Fabry's disease
    • Pabico RC, Atancio BC, McKenna BA, Pamukcoglu T, Yodaiken R: Renal pathologic lesions and functional alterations in a man with Fabry's disease. Am J Med 55:415-425, 1973
    • (1973) Am J Med , vol.55 , pp. 415-425
    • Pabico, R.C.1    Atancio, B.C.2    McKenna, B.A.3    Pamukcoglu, T.4    Yodaiken, R.5
  • 6
    • 0017132042 scopus 로고
    • Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies
    • Desnick RJ, Blieden LC, Sharp HL, Hofschire PJ, Moller JH: Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies. Circulation 54:818-825, 1976
    • (1976) Circulation , vol.54 , pp. 818-825
    • Desnick, R.J.1    Blieden, L.C.2    Sharp, H.L.3    Hofschire, P.J.4    Moller, J.H.5
  • 7
    • 0002403834 scopus 로고    scopus 로고
    • The sex chromosome and X chromosome inactivation
    • Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds). New York, NY, McGraw-Hill
    • Willard HF: The sex chromosome and X chromosome inactivation, in Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds): The Metabolic and Molecular Bases of Inherited Disease (ed 8). New York, NY, McGraw-Hill, 2001, pp 1191-1212
    • (2001) The Metabolic and Molecular Bases of Inherited Disease (Ed 8) , pp. 1191-1212
    • Willard, H.F.1
  • 8
    • 0000130432 scopus 로고
    • The renal lesion in angiokeratoma corporis diffusum
    • Colley J, Miller D, Huntt M, Wallace H: The renal lesion in angiokeratoma corporis diffusum. Br Med J 1:1266-1268, 1958
    • (1958) Br Med J , vol.1 , pp. 1266-1268
    • Colley, J.1    Miller, D.2    Huntt, M.3    Wallace, H.4
  • 10
    • 0001511860 scopus 로고    scopus 로고
    • Heritable metabolic diseases
    • Jennette JC, Olson JL, Schwartz MM, Silva FG (eds). Philadelphia, PA, Lippincott-Raven
    • Bernstein J, Churg J: Heritable metabolic diseases, in Jennette JC, Olson JL, Schwartz MM, Silva FG (eds): Heptinstall's Pathology of the Kidney. Philadelphia, PA, Lippincott-Raven, 1999, pp 1289-1292
    • (1999) Heptinstall's Pathology of the Kidney , pp. 1289-1292
    • Bernstein, J.1    Churg, J.2
  • 11
    • 0036122659 scopus 로고    scopus 로고
    • Natural history of Fabry renal disease: Influence of α -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 α-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81:122-138, 2002
    • (2002) Medicine (Baltimore) , vol.81 , pp. 122-138
    • Branton, M.H.1    Schiffmann, R.2    Sabnis, S.G.3
  • 12
    • 0036436320 scopus 로고    scopus 로고
    • Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
    • Thurberg BL, Rennke H, Colvin RB, et al: Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62:1933-1946, 2002
    • (2002) Kidney Int , vol.62 , pp. 1933-1946
    • Thurberg, B.L.1    Rennke, H.2    Colvin, R.B.3
  • 14
    • 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 61:249-255, 2002
    • (2002) Kidney Int , vol.61 , pp. 249-255
    • Thadhani, R.1    Wolf, M.2    West, M.L.3
  • 15
    • 0034660663 scopus 로고    scopus 로고
    • Excellent outcome of renal transplantation in patients with Fabry's disease
    • Ojo A, Meier-Kriesche HU, Friedman G, et al: Excellent outcome of renal transplantation in patients with Fabry's disease. Transplantation 69:2337-2339, 2000
    • (2000) Transplantation , vol.69 , pp. 2337-2339
    • Ojo, A.1    Meier-Kriesche, H.U.2    Friedman, G.3
  • 16
    • 0025049304 scopus 로고
    • Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy
    • Elleder M, Bradova V, Smid F, et al: Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 417:449-455, 1990
    • (1990) Virchows Arch A Pathol Anat Histopathol , vol.417 , pp. 449-455
    • Elleder, M.1    Bradova, V.2    Smid, F.3
  • 17
    • 0026099642 scopus 로고
    • An atypical variant of Fabry's disease with manifestations confined to the myocardium
    • von Scheidt W, Eng CM, Fitzmaurice TF, et al: An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 324:395-399, 1991
    • (1991) N Engl J Med , vol.324 , pp. 395-399
    • Von Scheidt, W.1    Eng, C.M.2    Fitzmaurice, T.F.3
  • 18
    • 0025971051 scopus 로고
    • Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A
    • Nagao Y, Nakashima H, Fukuhara Y, et al: Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A. Clin Genet 39:233-237, 1991
    • (1991) Clin Genet , vol.39 , pp. 233-237
    • Nagao, Y.1    Nakashima, H.2    Fukuhara, Y.3
  • 19
    • 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 333:288-293, 1995
    • (1995) N Engl J Med , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3
  • 20
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • Sachdev B, Takenaka T, Teraguchi H, et al: Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105:1407-1411, 2002
    • (2002) Circulation , vol.105 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, H.3
  • 21
    • 0015209851 scopus 로고
    • Ceramide trihexosidosis (Fabry's disease) without skin lesions
    • Clarke JT, Knaack J, Crawhall JC, Wolfe LS: Ceramide trihexosidosis (Fabry's disease) without skin lesions. N Engl J Med 284:233-235, 1971
    • (1971) N Engl J Med , vol.284 , pp. 233-235
    • Clarke, J.T.1    Knaack, J.2    Crawhall, J.C.3    Wolfe, L.S.4
  • 22
    • 0030926514 scopus 로고    scopus 로고
    • Fabry disease: Thirty-five mutations in the α-galactosidase A gene in patients with classic and variant phenotypes
    • Eng CM, Ashley GA, Burgert TS, Enriquez AL, D'Souza M, Desnick RJ: Fabry disease: Thirty-five mutations in the α-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 3:174-182, 1997
    • (1997) Mol Med , vol.3 , pp. 174-182
    • Eng, C.M.1    Ashley, G.A.2    Burgert, T.S.3    Enriquez, A.L.4    D'Souza, M.5    Desnick, R.J.6
  • 23
    • 0033786533 scopus 로고    scopus 로고
    • 22 Novel mutations in the α-galactosidase A gene and genotype/phenotype correlations including mild hemizygotes and severely affected heterozygotes
    • Ashton-Prolla P, Tong B, Astrin KH, Shabbeer J, Eng CM, Desnick RJ: 22 novel mutations in the α-galactosidase A gene and genotype/phenotype correlations including mild hemizygotes and severely affected heterozygotes. J Invest Med 48:227-235, 2000
    • (2000) J Invest Med , vol.48 , pp. 227-235
    • Ashton-Prolla, P.1    Tong, B.2    Astrin, K.H.3    Shabbeer, J.4    Eng, C.M.5    Desnick, R.J.6
  • 24
    • 0028181097 scopus 로고
    • Human α-galactosidase gene expression: Significance of two peptide regions encoded by exons 1- 2 and 6
    • Ishii S, Kase R, Sakuraba H, et al: Human α-galactosidase gene expression: Significance of two peptide regions encoded by exons 1-2 and 6. Biochim Biophys Acta 1204: 265-270, 1994
    • (1994) Biochim Biophys Acta , vol.1204 , pp. 265-270
    • Ishii, S.1    Kase, R.2    Sakuraba, H.3
  • 25
    • 0025064445 scopus 로고
    • Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry disease
    • Sakuraba H, Oshima A, Fukuhara Y, et al: Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet 47:784-789, 1990
    • (1990) Am J Hum Genet , vol.47 , pp. 784-789
    • Sakuraba, H.1    Oshima, A.2    Fukuhara, Y.3
  • 26
    • 0015583864 scopus 로고
    • Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, urine, and leukocytes
    • Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W: Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 81:157-171, 1973
    • (1973) J Lab Clin Med , vol.81 , pp. 157-171
    • Desnick, R.J.1    Allen, K.Y.2    Desnick, S.J.3    Raman, M.K.4    Bernlohr, R.W.5    Krivit, W.6
  • 27
    • 0027318662 scopus 로고
    • Fabry disease: Detection of gene rearrangements in the human α-galactosidase A gene by multiplex PCR amplification
    • Kornreich R, Desnick RJ: Fabry disease: Detection of gene rearrangements in the human α-galactosidase A gene by multiplex PCR amplification. Hum Mutat 2:108-111, 1993
    • (1993) Hum Mutat , vol.2 , pp. 108-111
    • Kornreich, R.1    Desnick, R.J.2
  • 28
    • 0026506110 scopus 로고
    • Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease
    • Ishii S, Sakuraba H, Suzuki Y: Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet 89:29-32, 1992
    • (1992) Hum Genet , vol.89 , pp. 29-32
    • Ishii, S.1    Sakuraba, H.2    Suzuki, Y.3
  • 29
    • 0027787898 scopus 로고
    • Characterization of a mutant α-galactosidase gene product for the lateonset cardiac form of Fabry disease
    • Ishii S, Kase R, Sakuraba H, Suzuki Y: Characterization of a mutant α-galactosidase gene product for the lateonset cardiac form of Fabry disease. Biochem Biophys Res Commun 197:1585-1589, 1993
    • (1993) Biochem Biophys Res Commun , vol.197 , pp. 1585-1589
    • Ishii, S.1    Kase, R.2    Sakuraba, H.3    Suzuki, Y.4
  • 30
    • 0034659627 scopus 로고    scopus 로고
    • Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease
    • Kase R, Bierfreund U, Klein A, et al: Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. Biochim Biophys Acta 1501:227-235, 2000
    • (2000) Biochim Biophys Acta , vol.1501 , pp. 227-235
    • Kase, R.1    Bierfreund, U.2    Klein, A.3
  • 32
    • 0033276655 scopus 로고    scopus 로고
    • Twenty novel mutations in the α-galactosidase A gene causing Fabry disease
    • Topaloglu AK, Ashley GA, Tong B, et al: Twenty novel mutations in the α-galactosidase A gene causing Fabry disease. Mol Med 5:806-811, 1999
    • (1999) Mol Med , vol.5 , pp. 806-811
    • Topaloglu, A.K.1    Ashley, G.A.2    Tong, B.3
  • 33
    • 0035035316 scopus 로고    scopus 로고
    • Fabry disease: Twenty novel α-galactosidase A mutations causing the classical phenotype
    • Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ: Fabry disease: Twenty novel α-galactosidase A mutations causing the classical phenotype. J Hum Genet 46:192-196, 2001
    • (2001) J Hum Genet , vol.46 , pp. 192-196
    • Ashley, G.A.1    Shabbeer, J.2    Yasuda, M.3    Eng, C.M.4    Desnick, R.J.5
  • 34
    • 0034924174 scopus 로고    scopus 로고
    • Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
    • Altarescu GM, Goldfarb LG, Park KY, et al: Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 60:46-51, 2001
    • (2001) Clin Genet , vol.60 , pp. 46-51
    • Altarescu, G.M.1    Goldfarb, L.G.2    Park, K.Y.3
  • 35
    • 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 13:223-235, 1978
    • (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
  • 37
    • 0035097499 scopus 로고    scopus 로고
    • A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
    • Eng CM, Banikazemi M, Gordon R, et al: A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68:711-722, 2001
    • (2001) Am J Hum Genet , vol.68 , pp. 711-722
    • Eng, C.M.1    Banikazemi, M.2    Gordon, R.3
  • 38
    • 0035811624 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease
    • Eng CM, Guffon N, Wilcox WR, et al: Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 345:9-16, 2001
    • (2001) N Engl J Med , vol.345 , pp. 9-16
    • Eng, C.M.1    Guffon, N.2    Wilcox, W.R.3
  • 39
    • 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. JAMA 285:2743-2749, 2001
    • (2001) JAMA , vol.285 , pp. 2743-2749
    • Schiffmann, R.1    Kopp, J.B.2    Austin III, H.A.3
  • 40
    • 0037237933 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Anderson-Fabry's disease: Beneficial clinical effect on vital organ function
    • De Schoenmakere G, Chauveau D, Grunfeld JP: Enzyme replacement therapy in Anderson-Fabry's disease: Beneficial clinical effect on vital organ function. Nephrol Dial Transplant 18:33-35, 2003
    • (2003) Nephrol Dial Transplant , vol.18 , pp. 33-35
    • De Schoenmakere, G.1    Chauveau, D.2    Grunfeld, J.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.