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Volumn 79, Issue 6, 2011, Pages 663-670

Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease

Author keywords

Fabry disease pathology; pediatric nephrology; podocyte; renal biopsy

Indexed keywords

GLOBOTRIAOSYLCERAMIDE;

EID: 79952192786     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2010.484     Document Type: Article
Times cited : (134)

References (36)
  • 1
    • 0000130432 scopus 로고
    • The renal lesion in angiokeratoma corporis diffusum
    • Colley JR, Miller DL, Hutt MS et al. The renal lesion in angiokeratoma corporis diffusum. Br Med J 1958; 1: 1266-1268.
    • (1958) Br Med J , vol.1 , pp. 1266-1268
    • Colley, J.R.1    Miller, D.L.2    Hutt, M.S.3
  • 3
    • 0034766525 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
    • MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38: 750-760. (Pubitemid 33032930)
    • (2001) Journal of Medical Genetics , vol.38 , Issue.11 , pp. 750-760
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 4
    • 0034754467 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females [1]
    • MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 38: 769-775. (Pubitemid 33032933)
    • (2001) Journal of Medical Genetics , vol.38 , Issue.11 , pp. 769-775
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 5
    • 38049036770 scopus 로고    scopus 로고
    • Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
    • Wilcox WR, Oliveira JP, Hopkin RJ. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008; 93: 112-128.
    • (2008) Mol Genet Metab , vol.93 , pp. 112-128
    • Wilcox, W.R.1    Oliveira, J.P.2    Hopkin, R.J.3
  • 6
    • 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
    • 43049092306 scopus 로고    scopus 로고
    • Renal biopsy findings in children and adolescents with fabry disease and minimal albuminuria
    • DOI 10.1053/j.ajkd.2007.12.032, PII S0272638608000668
    • Tøndel C, Bostad L, Hirth A et al. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria [published erratum appears in Am J Kidney Dis 2009; 53: 567] Am J Kidney Dis 2008; 51: 767-776. (Pubitemid 351626251)
    • (2008) American Journal of Kidney Diseases , vol.51 , Issue.5 , pp. 767-776
    • Tondel, C.1    Bostad, L.2    Hirth, A.3    Svarstad, E.4
  • 9
    • 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. 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
  • 11
    • 31544456336 scopus 로고    scopus 로고
    • Long-term therapy with agalsidase alfa for Fabry disease: Safety and effects on renal function in a home infusion setting
    • DOI 10.1093/ndt/gfi152
    • Schiffmann R, Ries M, Timmons M et al. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 2006; 21: 345-354. (Pubitemid 43159987)
    • (2006) Nephrology Dialysis Transplantation , vol.21 , Issue.2 , pp. 345-354
    • Schiffmann, R.1    Ries, M.2    Timmons, M.3    Flaherty, J.T.4    Brady, R.O.5
  • 14
    • 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
  • 15
    • 0017872842 scopus 로고
    • Early renal changes in hemizygous and heterozygous patients with Fabry's disease
    • Gubler MC, Lenoir G, Grunfeld JP et al. Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int 1978; 13: 223-235. (Pubitemid 8304328)
    • (1978) Kidney International , vol.13 , Issue.3 , pp. 223-235
    • Gubler, M.C.1    Lenoir, G.2    Grunfeld, J.P.3
  • 16
    • 34447607076 scopus 로고
    • Ein beitrag zur kenntnis der purpura haemorrhagica nodularis
    • Fabry J. Ein beitrag zur kenntnis der purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Hebrae). Arch Dermatol Syphilis 1898; 43: 187-200.
    • (1898) Arch Dermatol Syphilis , vol.43 , pp. 187-200
    • Fabry, J.1
  • 17
    • 78651001239 scopus 로고
    • Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; Two autopsy reports
    • Pompen AW, Ruiter M, Wyers HJ. Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. Acta Med Scand 1947; 128: 234-255.
    • (1947) Acta Med Scand , vol.128 , pp. 234-255
    • Pompen, A.W.1    Ruiter, M.2    Wyers, H.J.3
  • 19
    • 0031626770 scopus 로고    scopus 로고
    • Fetal pathology in Fabry's disease and mucopolysaccharidosis type i
    • Elleder M, Poupetova H, Kozich V. Fetal pathology in Fabry's disease and mucopolysaccharidosis type I. Cesk Patol 1998; 34: 7-12.
    • (1998) Cesk Patol , vol.34 , pp. 7-12
    • Elleder, M.1    Poupetova, H.2    Kozich, V.3
  • 20
    • 0015583864 scopus 로고
    • Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes
    • Desnick RJ, Allen KY, Desnick SJ et al. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 1973; 81: 157-171.
    • (1973) J Lab Clin Med , vol.81 , pp. 157-171
    • Desnick, R.J.1    Allen, K.Y.2    Desnick, S.J.3
  • 21
    • 0022039364 scopus 로고
    • Early prenatal diagnosis of inborn error of metabolism: A case report of a fetus affected with Fabry's disease
    • Tsutsumi O, Sato M, Sato K et al. Early prenatal diagnosis of inborn error of metabolism: a case report of a fetus affected with Fabry's disease. Asia Oceania J Obstet Gynaecol 1985; 11: 39-45.
    • (1985) Asia Oceania J Obstet Gynaecol , vol.11 , pp. 39-45
    • Tsutsumi, O.1    Sato, M.2    Sato, K.3
  • 22
    • 84985280160 scopus 로고
    • The efficiency of systematic sampling in stereology and its prediction
    • Gundersen HJ, Jensen EB. The efficiency of systematic sampling in stereology and its prediction. J Microsc 1987; 147: 229-263.
    • (1987) J Microsc , vol.147 , pp. 229-263
    • Gundersen, H.J.1    Jensen, E.B.2
  • 23
    • 33745058119 scopus 로고    scopus 로고
    • The podocyte's response to injury: Role in proteinuria and glomerulosclerosis
    • DOI 10.1038/sj.ki.5000410, PII 5000410
    • Shankland SJ. The podocyte's response to injury: role in proteinuria and glomerulosclerosis. Kidney Int 2006; 69: 2131-2147. (Pubitemid 43882099)
    • (2006) Kidney International , vol.69 , Issue.12 , pp. 2131-2147
    • Shankland, S.J.1
  • 25
    • 49149125138 scopus 로고    scopus 로고
    • Albumin excretion rate in normal adolescents: Relation to insulin resistance and cardiovascular risk factors and comparisons to type 1 diabetes mellitus patients
    • Rademacher E, Mauer M, Jacobs DRJ et al. Albumin excretion rate in normal adolescents: relation to insulin resistance and cardiovascular risk factors and comparisons to type 1 diabetes mellitus patients. Clin J Am Soc Nephrol 2008; 3: 998-1005.
    • (2008) Clin J Am Soc Nephrol , vol.3 , pp. 998-1005
    • Rademacher, E.1    Mauer, M.2    Drj, J.3
  • 26
    • 18644369961 scopus 로고    scopus 로고
    • Widening of foot processes in normoalbuminuric adolescents with type 1 diabetes
    • DOI 10.1007/s00467-005-1829-5
    • Torbjörnsdotter TB, Perrin NE, Jaremko GA et al. Widening of foot processes in normoalbuminuric adolescents with type 1 diabetes. Pediatr Nephrol 2005; 20: 750-758. (Pubitemid 40663157)
    • (2005) Pediatric Nephrology , vol.20 , Issue.6 , pp. 750-758
    • Torbjornsdotter, T.B.1    Perrin, N.E.S.S.2    Jaremko, G.A.3    Berg, U.B.4
  • 29
    • 70349316414 scopus 로고    scopus 로고
    • Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease
    • Lubanda JC, Anijalg E, Bzdúch V et al. Evaluation of a low dose, 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
  • 30
    • 78650371014 scopus 로고    scopus 로고
    • Prognostic indicators of renal disease progression in adults with Fabry disease: Natural history data from the Fabry registry
    • [PMID:20813854; e-pub ahead of print]
    • 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 [PMID:20813854; e-pub ahead of print].
    • (2010) Clin J Am Soc Nephrol
    • Wanner, C.1    Oliveira, J.P.2    Ortiz, A.3
  • 32
    • 34547611903 scopus 로고    scopus 로고
    • Podocyte detachment and reduced glomerular capillary endothelial fenestration in human type 1 diabetic nephropathy
    • DOI 10.2337/db07-0019
    • Toyoda M, Najafian B, Kim Y et al. Podocyte detachment and reduced glomerular capillary endothelial fenestration in human type 1 diabetic nephropathy. Diabetes 2007; 56: 2155-2160. (Pubitemid 47195834)
    • (2007) Diabetes , vol.56 , Issue.8 , pp. 2155-2160
    • Toyoda, M.1    Najafian, B.2    Kim, Y.3    Caramori, M.L.4    Mauer, M.5
  • 33
    • 69849097516 scopus 로고    scopus 로고
    • Decreased nitric oxide bioavailability in a mouse model of Fabry disease
    • Shu L, Park JL, Byun J et al. Decreased nitric oxide bioavailability in a mouse model of Fabry disease. J Am Soc Nephrol 2009; 20: 1975-1985.
    • (2009) J Am Soc Nephrol , vol.20 , pp. 1975-1985
    • Shu, L.1    Park, J.L.2    Byun, J.3
  • 34
    • 0037530556 scopus 로고    scopus 로고
    • Glomerular structure in the normal human kidney: Differences between living and cadaver donors
    • DOI 10.1097/01.ASN.0000075554.31464.DA
    • Caramori ML, Basgen JM, Mauer M. Glomerular structure in the normal human kidney: differences between living and cadaver donors. J Am Soc Nephrol 2003; 14: 1901-1903. (Pubitemid 36750487)
    • (2003) Journal of the American Society of Nephrology , vol.14 , Issue.7 , pp. 1901-1903
    • Caramori, M.L.1    Basgen, J.M.2    Mauer, M.3
  • 35
    • 0036068369 scopus 로고    scopus 로고
    • Cellular basis of diabetic nephropathy: 1. Study design and renal structural-functional relationships in patients with long-standing type 1 diabetes
    • Caramori ML, Kim Y, Huang C et al. Cellular basis of diabetic nephropathy: 1. Study design and renal structural-functional relationships in patients with long-standing type 1 diabetes [published erratum appears in Diabetes 2002; 51: 1294] Diabetes 2002; 51: 506-513. (Pubitemid 34764810)
    • (2002) Diabetes , vol.51 , Issue.2 , pp. 506-513
    • Luiza Caramori, M.1    Kim, Y.2    Huang, C.3    Fish, A.J.4    Rich, S.S.5    Miller, M.E.6    Russell, G.7    Mauer, M.8
  • 36
    • 0021207350 scopus 로고
    • Assessment of proteinuria using
    • random urine samples
    • Houser M. Assessment of proteinuria using random urine samples. J Pediatr 1984; 104: 845-848.
    • (1984) J Pediatr , vol.104 , pp. 845-848
    • Houser, M.1


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