메뉴 건너뛰기




Volumn 10, Issue 4, 2015, Pages 703-709

Ocular features in Alport syndrome: Pathogenesis and clinical significance

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; TUMSTATIN; AUTOANTIGEN; COL4A4 PROTEIN, HUMAN; COL4A5 PROTEIN, HUMAN; TYPE IV COLLAGEN ALPHA3 CHAIN;

EID: 84926666577     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.10581014     Document Type: Review
Times cited : (157)

References (62)
  • 1
    • 0031473018 scopus 로고    scopus 로고
    • Alport syndrome. A review of the ocular manifestations
    • Colville DJ, Savige J: Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet 18: 161-173, 1997
    • (1997) Ophthalmic Genet , vol.18 , pp. 161-173
    • Colville, D.J.1    Savige, J.2
  • 2
    • 68549085536 scopus 로고    scopus 로고
    • Opinion:Ocular features aid the diagnosis of Alport syndrome
    • Savige J, Colville D: Opinion:Ocular features aid the diagnosis of Alport syndrome. Nat Rev Nephrol 5: 356-360, 2009
    • (2009) Nat Rev Nephrol , vol.5 , pp. 356-360
    • Savige, J.1    Colville, D.2
  • 3
    • 0031181897 scopus 로고    scopus 로고
    • Recurrent corneal erosion associated with Alport’s syndrome. Rapid communication
    • Rhys C, Snyers B, Pirson Y: Recurrent corneal erosion associated with Alport’s syndrome. Rapid communication. Kidney Int 52: 208-211, 1997
    • (1997) Kidney Int , vol.52 , pp. 208-211
    • Rhys, C.1    Snyers, B.2    Pirson, Y.3
  • 4
    • 10644243469 scopus 로고    scopus 로고
    • Symmetrical reduced retinal thickness in a patient with Alport syndrome
    • Usui T, Ichibe M, Hasegawa S, Miki A, Baba E, Tanimoto N, Abe H: Symmetrical reduced retinal thickness in a patient with Alport syndrome. Retina 24: 977-979, 2004
    • (2004) Retina , vol.24 , pp. 977-979
    • Usui, T.1    Ichibe, M.2    Hasegawa, S.3    Miki, A.4    Baba, E.5    Tanimoto, N.6    Abe, H.7
  • 6
    • 34248181564 scopus 로고    scopus 로고
    • Giant macular hole in Alport syndrome
    • Rahman W, Banerjee S: Giant macular hole in Alport syndrome. Can J Ophthalmol 42: 314-315, 2007
    • (2007) Can J Ophthalmol , vol.42 , pp. 314-315
    • Rahman, W.1    Banerjee, S.2
  • 7
    • 72449157447 scopus 로고    scopus 로고
    • Retinal findings in patients with Alport Syndrome: Expanding the clinical spectrum
    • Fawzi AA, Lee NG, Eliott D, Song J, Stewart JM: Retinal findings in patients with Alport Syndrome: Expanding the clinical spectrum. Br J Ophthalmol 93: 1606-1611, 2009
    • (2009) Br J Ophthalmol , vol.93 , pp. 1606-1611
    • Fawzi, A.A.1    Lee, N.G.2    Eliott, D.3    Song, J.4    Stewart, J.M.5
  • 14
    • 0035046418 scopus 로고    scopus 로고
    • Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome
    • Buzza M, Wilson D, Savige J: Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Kidney Int 59: 1670-1676, 2001
    • (2001) Kidney Int , vol.59 , pp. 1670-1676
    • Buzza, M.1    Wilson, D.2    Savige, J.3
  • 16
    • 79551505872 scopus 로고    scopus 로고
    • Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes
    • Parkin JD, San Antonio JD, Pedchenko V, Hudson B, Jensen ST, Savige J: Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes. Hum Mutat 32: 127-143, 2011
    • (2011) Hum Mutat , vol.32 , pp. 127-143
    • Parkin, J.D.1    San Antonio, J.D.2    Pedchenko, V.3    Hudson, B.4    Jensen, S.T.5    Savige, J.6
  • 21
    • 60349120776 scopus 로고    scopus 로고
    • Genetic diseases of connective tissues: Cellular and extracellular effects of ECM mutations
    • Bateman JF, Boot-Handford RP, Lamande´ SR: Genetic diseases of connective tissues: Cellular and extracellular effects of ECM mutations. Nat Rev Genet 10: 173-183, 2009
    • (2009) Nat Rev Genet , vol.10 , pp. 173-183
    • Bateman, J.F.1    Boot-Handford, R.P.2    Lamande´, S.R.3
  • 22
    • 0029692914 scopus 로고    scopus 로고
    • The alpha chains of type IV collagen
    • Zhou J, Reeders ST: The alpha chains of type IV collagen. Contrib Nephrol 117: 80-104, 1996
    • (1996) Contrib Nephrol , vol.117 , pp. 80-104
    • Zhou, J.1    Reeders, S.T.2
  • 23
    • 0032502667 scopus 로고    scopus 로고
    • Glomerular basement membrane. Identification of a novel disulfide-cross-linked network of alpha3, alpha4, and alpha5 chains of type IV collagen and its implications for the pathogenesis of Alport syndrome
    • Gunwar S, Ballester F, Noelken ME, Sado Y, Ninomiya Y, Hudson BG: Glomerular basement membrane. Identification of a novel disulfide-cross-linked network of alpha3, alpha4, and alpha5 chains of type IV collagen and its implications for the pathogenesis of Alport syndrome. J Biol Chem 273: 8767-8775, 1998
    • (1998) J Biol Chem , vol.273 , pp. 8767-8775
    • Gunwar, S.1    Ballester, F.2    Noelken, M.E.3    Sado, Y.4    Ninomiya, Y.5    Hudson, B.G.6
  • 24
    • 0031000529 scopus 로고    scopus 로고
    • Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis
    • Kalluri R, Shield CF, Todd P, Hudson BG, Neilson EG: Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis. J Clin Invest 99: 2470-2478, 1997
    • (1997) J Clin Invest , vol.99 , pp. 2470-2478
    • Kalluri, R.1    Shield, C.F.2    Todd, P.3    Hudson, B.G.4    Neilson, E.G.5
  • 27
    • 33745686157 scopus 로고    scopus 로고
    • Role for macrophage metalloelastase in glomerular basement membrane damage associated with Alport syndrome
    • Rao VH, Meehan DT, Delimont D, Nakajima M, Wada T, Gratton MA, Cosgrove D: Role for macrophage metalloelastase in glomerular basement membrane damage associated with Alport syndrome. Am J Pathol 169: 32-46, 2006
    • (2006) Am J Pathol , vol.169 , pp. 32-46
    • Rao, V.H.1    Meehan, D.T.2    Delimont, D.3    Nakajima, M.4    Wada, T.5    Gratton, M.A.6    Cosgrove, D.7
  • 30
    • 0036020918 scopus 로고    scopus 로고
    • Metaanalysis of genotype-phenotype correlation in X-linked Alport syndrome: Impact on clinical counselling
    • Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M: Metaanalysis of genotype-phenotype correlation in X-linked Alport syndrome: Impact on clinical counselling. Nephrol Dial Transplant 17: 1218-1227, 2002
    • (2002) Nephrol Dial Transplant , vol.17 , pp. 1218-1227
    • Gross, O.1    Netzer, K.O.2    Lambrecht, R.3    Seibold, S.4    Weber, M.5
  • 31
    • 75749130327 scopus 로고    scopus 로고
    • Alport retinopathy results from“severe” COL4A5 mutations and predicts early renal failure
    • Tan R, Colville D, Wang YY, Rigby L, Savige J Alport retinopathy results from“severe” COL4A5 mutations and predicts early renal failure. Clin J Am Soc Nephrol 5: 34-38, 2010
    • (2010) Clin J am Soc Nephrol , vol.5 , pp. 34-38
    • Tan, R.1    Colville, D.2    Wang, Y.Y.3    Rigby, L.4    Savige, J.5
  • 32
    • 5044236064 scopus 로고    scopus 로고
    • Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders
    • Persikov AV, Pillitteri RJ, Amin P, Schwarze U, Byers PH, Brodsky B: Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Hum Mutat 24: 330-337, 2004
    • (2004) Hum Mutat , vol.24 , pp. 330-337
    • Persikov, A.V.1    Pillitteri, R.J.2    Amin, P.3    Schwarze, U.4    Byers, P.H.5    Brodsky, B.6
  • 34
    • 84889007345 scopus 로고    scopus 로고
    • COL4A3/ COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome
    • Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA: COL4A3/ COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. J Am Soc Nephrol 24: 1945-1954, 2013
    • (2013) J am Soc Nephrol , vol.24 , pp. 1945-1954
    • Storey, H.1    Savige, J.2    Sivakumar, V.3    Abbs, S.4    Flinter, F.A.5
  • 36
    • 33745095358 scopus 로고    scopus 로고
    • Pathogenesis, clinical features and management of recurrent corneal erosions
    • Ramamurthi S, Rahman MQ, Dutton GN, Ramaesh K: Pathogenesis, clinical features and management of recurrent corneal erosions. Eye (Lond) 20: 635-644, 2006
    • (2006) Eye (Lond) , vol.20 , pp. 635-644
    • Ramamurthi, S.1    Rahman, M.Q.2    Dutton, G.N.3    Ramaesh, K.4
  • 41
    • 0028007229 scopus 로고
    • An ultrastructural investigation of an early manifestation of the posterior polymorphous dystrophy of the cornea
    • Sekundo W, Lee WR, Kirkness CM, Aitken DA, Fleck B: An ultrastructural investigation of an early manifestation of the posterior polymorphous dystrophy of the cornea. Ophthalmology 101: 1422-1431, 1994
    • (1994) Ophthalmology , vol.101 , pp. 1422-1431
    • Sekundo, W.1    Lee, W.R.2    Kirkness, C.M.3    Aitken, D.A.4    Fleck, B.5
  • 42
    • 0025775411 scopus 로고
    • The posterior corneal surface in posterior polymorphous dystrophy: A specular microscopical study
    • Laganowski HC, Sherrard ES, Muir MG: The posterior corneal surface in posterior polymorphous dystrophy: A specular microscopical study. Cornea 10: 224-232, 1991
    • (1991) Cornea , vol.10 , pp. 224-232
    • Laganowski, H.C.1    Sherrard, E.S.2    Muir, M.G.3
  • 43
    • 0028352957 scopus 로고
    • Immunohistologic studies of type IVcollagen in anterior lens capsules of patients with Alport syndrome
    • Cheong HI, Kashtan CE, Kim Y, Kleppel MM, Michael AF: Immunohistologic studies of type IVcollagen in anterior lens capsules of patients with Alport syndrome. Lab Invest 70: 553-557, 1994
    • (1994) Lab Invest , vol.70 , pp. 553-557
    • Cheong, H.I.1    Kashtan, C.E.2    Kim, Y.3    Kleppel, M.M.4    Michael, A.F.5
  • 45
    • 0038547767 scopus 로고    scopus 로고
    • Immunohistochemical andmolecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome
    • Ohkubo S, Takeda H, Higashide T, Ito M, Sakurai M, Shirao Y, Yanagida T, Oda Y, Sado Y: Immunohistochemical andmolecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome. Arch Ophthalmol 121: 846-850, 2003
    • (2003) Arch Ophthalmol , vol.121 , pp. 846-850
    • Ohkubo, S.1    Takeda, H.2    Higashide, T.3    Ito, M.4    Sakurai, M.5    Shirao, Y.6    Yanagida, T.7    Oda, Y.8    Sado, Y.9
  • 46
    • 84903555109 scopus 로고    scopus 로고
    • Bilateral anterior lenticonus in a case of Alport syndrome: A clinical and histopathological correlation after successful clear lens extraction [published online ahead of print June 26, 2014]
    • Sonarkhan S, Ramappa M, Chaurasia S, Mulay K: Bilateral anterior lenticonus in a case of Alport syndrome: A clinical and histopathological correlation after successful clear lens extraction [published online ahead of print June 26, 2014]. BMJ Case Rep 2014 doi: 10.1136/bcr-2013-202036
    • (2014) BMJ Case Rep
    • Sonarkhan, S.1    Ramappa, M.2    Chaurasia, S.3    Mulay, K.4
  • 47
    • 20144378013 scopus 로고    scopus 로고
    • Anterior lens capsule abnormalities in Alport syndrome
    • Choi J, Na K, Bae S, Roh G: Anterior lens capsule abnormalities in Alport syndrome. Korean J Ophthalmol 19: 84-89, 2005
    • (2005) Korean J Ophthalmol , vol.19 , pp. 84-89
    • Choi, J.1    Na, K.2    Bae, S.3    Roh, G.4
  • 48
    • 24644456844 scopus 로고    scopus 로고
    • Bilateral simultaneous anterior and posterior lenticonus in Alport’s syndrome
    • Vedantham V, Rajagopal J, Ratnagiri PK: Bilateral simultaneous anterior and posterior lenticonus in Alport’s syndrome. Indian J Ophthalmol 53: 212-213, 2005
    • (2005) Indian J Ophthalmol , vol.53 , pp. 212-213
    • Vedantham, V.1    Rajagopal, J.2    Ratnagiri, P.K.3
  • 49
    • 59649124116 scopus 로고    scopus 로고
    • Clear lens phacoemulsification with continuous curvilinear capsulorhexis and foldable intraocular lens implantation for the treatment of a patientwith bilateral anterior lenticonus due to Alport syndrome
    • Liu YB, Tan SJ, Sun ZY, Li X, Huang BY, Hu QM: Clear lens phacoemulsification with continuous curvilinear capsulorhexis and foldable intraocular lens implantation for the treatment of a patientwith bilateral anterior lenticonus due to Alport syndrome. J IntMed Res 36: 1440-1444, 2008
    • (2008) J Intmed Res , vol.36 , pp. 1440-1444
    • Liu, Y.B.1    Tan, S.J.2    Sun, Z.Y.3    Li, X.4    Huang, B.Y.5    Hu, Q.M.6
  • 50
    • 0017884098 scopus 로고
    • Lenticonus anterior and Alport’s syndrome
    • Nielsen CE: Lenticonus anterior and Alport’s syndrome. Acta Ophthalmol (Copenh) 56: 518-530, 1978
    • (1978) Acta Ophthalmol (Copenh) , vol.56 , pp. 518-530
    • Nielsen, C.E.1
  • 54
    • 0020626685 scopus 로고
    • Ocular manifestations of Alport’s syndrome: A hereditary disorder of basement membranes?
    • Govan JA: Ocular manifestations of Alport’s syndrome: A hereditary disorder of basement membranes? Br J Ophthalmol 67: 493-503, 1983
    • (1983) Br J Ophthalmol , vol.67 , pp. 493-503
    • Govan, J.A.1
  • 56
    • 61749096175 scopus 로고    scopus 로고
    • The retinal “lozenge” or “dull macular reflex” in Alport syndrome may be associated with a severe retinopathy and early-onset renal failure
    • Colville D, Wang YY, Tan R, Savige J: The retinal “lozenge” or “dull macular reflex” in Alport syndrome may be associated with a severe retinopathy and early-onset renal failure. Br J Ophthalmol 93: 383-386, 2009
    • (2009) Br J Ophthalmol , vol.93 , pp. 383-386
    • Colville, D.1    Wang, Y.Y.2    Tan, R.3    Savige, J.4
  • 58
    • 0024422219 scopus 로고
    • Alport syndrome with hereditary macular degeneration
    • Setälä K, Ruusuvaara P: Alport syndrome with hereditary macular degeneration. Acta Ophthalmol (Copenh) 67: 409-414, 1989
    • (1989) Acta Ophthalmol (Copenh) , vol.67 , pp. 409-414
    • Setälä, K.1    Ruusuvaara, P.2
  • 60
    • 0037299826 scopus 로고    scopus 로고
    • Vitreoretinal degeneration complicated by retinal detachment in alport syndrome
    • Shaikh S, Garretson B, Williams GA: Vitreoretinal degeneration complicated by retinal detachment in alport syndrome. Retina 23: 119-120, 2003
    • (2003) Retina , vol.23 , pp. 119-120
    • Shaikh, S.1    Garretson, B.2    Williams, G.A.3
  • 61
    • 0347763581 scopus 로고    scopus 로고
    • Spontaneous rupture of the anterior lens capsule combined with macular hole in a child with Alport’s syndrome
    • Pelit A, Oto S, Yilmaz G, Akova YA: Spontaneous rupture of the anterior lens capsule combined with macular hole in a child with Alport’s syndrome. J Pediatr Ophthalmol Strabismus 41: 59-61, 2004
    • (2004) J Pediatr Ophthalmol Strabismus , vol.41 , pp. 59-61
    • Pelit, A.1    Oto, S.2    Yilmaz, G.3    Akova, Y.A.4
  • 62
    • 84874616744 scopus 로고    scopus 로고
    • Expert guidelines for the management of Alport syndrome and thin basementmembrane nephropathy
    • Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F: Expert guidelines for the management of Alport syndrome and thin basementmembrane nephropathy. JAmSoc Nephrol 24: 364-375, 2013
    • (2013) Jamsoc Nephrol , vol.24 , pp. 364-375
    • Savige, J.1    Gregory, M.2    Gross, O.3    Kashtan, C.4    Ding, J.5    Flinter, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.