메뉴 건너뛰기




Volumn 5, Issue 6, 2009, Pages 356-360

Opinion: Ocular features aid the diagnosis of Alport syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ALPORT SYNDROME; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; HEARING LOSS; HUMAN; KIDNEY BIOPSY; KIDNEY FAILURE; OPHTHALMOSCOPY; PHENOTYPE; PRIORITY JOURNAL; RETINA EXAMINATION; RETINOPATHY; REVIEW; SLIT LAMP; X CHROMOSOME LINKED DISORDER; LENS DISEASE; NEPHRITIS; RETINA DISEASE;

EID: 68549085536     PISSN: 17595061     EISSN: 1759507X     Source Type: Journal    
DOI: 10.1038/nrneph.2009.65     Document Type: Review
Times cited : (42)

References (38)
  • 1
    • 26244438032 scopus 로고    scopus 로고
    • Congenital/inherited kidney diseases: How to identify them early and how to manage them
    • Grunfeld, J. P. Congenital/inherited kidney diseases: How to identify them early and how to manage them. Clin. Exp. Nephrol. 9, 192-194 (2005).
    • (2005) Clin. Exp. Nephrol. , vol.9 , pp. 192-194
    • Grunfeld, J.P.1
  • 2
    • 0019449140 scopus 로고
    • Alport's syndrome: A report of 58 cases and a review of the literature
    • Gubler, M. et al. Alport's syndrome: A report of 58 cases and a review of the literature. Am. J. med. 70, 493-505 (1981).
    • (1981) Am. J. Med. , vol.70 , pp. 493-505
    • Gubler, M.1
  • 4
    • 0017764041 scopus 로고
    • Macular lesions in Alport's disease
    • Polak, B. C. P. & Hogewind, B. L. Macular lesions in Alport's disease. Am. J. Ophthalmol. 84, 532-535 (1977).
    • (1977) Am. J. Ophthalmol. , vol.84 , pp. 532-535
    • Polak, B.C.P.1    Hogewind, B.L.2
  • 5
    • 0021958902 scopus 로고
    • Genetic heterogeneity of Alport syndrome
    • Feingold, J. et al. Genetic heterogeneity of Alport syndrome. Kidney Int. 27, 672-677 (1985).
    • (1985) Kidney Int. , vol.27 , pp. 672-677
    • Feingold, J.1
  • 6
    • 0025292712 scopus 로고
    • Identification of mutations in the COL4A5 collagen gene in Alport syndrome
    • Barker, D. F. et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248, 1224-1227 (1990).
    • (1990) Science , vol.248 , pp. 1224-1227
    • Barker, D.F.1
  • 8
    • 12044253337 scopus 로고
    • Type iv collagen á5 chain: Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody
    • Yoshioka, K. et al. Type iv collagen á5 chain: Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am. J. Pathol. 44, 986-996 (1994).
    • (1994) Am. J. Pathol. , vol.44 , pp. 986-996
    • Yoshioka, K.1
  • 9
    • 28144465642 scopus 로고    scopus 로고
    • Distribution of type iv collagen in the cochlea in Alport syndrome
    • Zehnder, A. F. et al. Distribution of type iv collagen in the cochlea in Alport syndrome. Arch. Otolaryngol. Head Neck Surg. 131, 1007-1013 (2005).
    • (2005) Arch. Otolaryngol. Head Neck Surg. , vol.131 , pp. 1007-1013
    • Zehnder, A.F.1
  • 10
    • 0038547767 scopus 로고    scopus 로고
    • Immunohistochemical and molecular genetic evidence for type iv collagen á5 chain abnormalities in the anterior lenticonus associated with Alport syndrome
    • Ohkubo, S. et al. Immunohistochemical and molecular genetic evidence for type iv collagen á5 chain abnormalities 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
  • 11
    • 0037309778 scopus 로고    scopus 로고
    • Distribution of the collagen IV isoforms in human Bruch's membrane
    • DOI 10.1136/bjo.87.2.212
    • Chen, L., Miyamura, N., Ninomiya, Y. & Handa, J. T. Distribution of the collagen iv isoforms in human Bruch's membranE. BR. J. Ophthalmol. 87, 212-215 (2003). (Pubitemid 36152750)
    • (2003) British Journal of Ophthalmology , vol.87 , Issue.2 , pp. 212-215
    • Chen, L.1    Miyamura, N.2    Ninomiya, Y.3    Handa, J.T.4
  • 12
  • 13
    • 0018844840 scopus 로고
    • Uberlegungen zur pathogenese des cochleo-renalen syndroms
    • Arnold, W. Uberlegungen zur pathogenese des cochleo-renalen syndromS. Acta Otolaryngol. 89, 330-341 (1980).
    • (1980) Acta Otolaryngol. , vol.89 , pp. 330-341
    • Arnold, W.1
  • 15
    • 0030708785 scopus 로고    scopus 로고
    • Ocular manifestations of autosomal recessive Alport syndrome
    • Colville, D. et al. Ocular manifestations of autosomal recessive Alport syndrome. Ophthalmic Genet. 18, 119-128 (1997).
    • (1997) Ophthalmic Genet. , vol.18 , pp. 119-128
    • Colville, D.1
  • 16
    • 0034073758 scopus 로고    scopus 로고
    • X-linked Alport syndrome: Natural history in 195 families and genotype- phenotype correlations in males
    • Jais, J. P. et al. X-linked Alport syndrome: Natural history in 195 families and genotype- phenotype correlations in males. J. Am. Soc. Nephrol. 11, 649-657 (2000).
    • (2000) J. Am. Soc. Nephrol. , vol.11 , pp. 649-657
    • Jais, J.P.1
  • 17
    • 0036020918 scopus 로고    scopus 로고
    • Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: Impact on clinical counselling
    • Gross, O., Netzer, K.-O., Lambrecht, R., Seibold, S. & Weber, M. meta-analysis 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
  • 18
    • 0141566829 scopus 로고    scopus 로고
    • X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: A 'european community Alport syndrome concerted Action' study
    • Jais, J. P. et al. X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: A 'european community Alport syndrome concerted Action' study. J. Am. Soc. Nephrol. 14, 2603-2610 (2003).
    • (2003) J. Am. Soc. Nephrol. , vol.14 , pp. 2603-2610
    • Jais, J.P.1
  • 19
    • 0035721629 scopus 로고    scopus 로고
    • A comparison of the clinical, histopathological and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome
    • Dagher, H. et al. A comparison of the clinical, histopathological and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome. Am. J. Kidney Dis. 38, 1217-1228 (2001).
    • (2001) Am. J. Kidney Dis. , vol.38 , pp. 1217-1228
    • Dagher, H.1
  • 20
    • 0031473018 scopus 로고    scopus 로고
    • Alport syndrome. A review of the ocular manifestations
    • Colville, D. & Savige, J. A. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet. 18, 161-173 (1997). (Pubitemid 28039523)
    • (1997) Ophthalmic Genetics , vol.18 , Issue.4 , pp. 161-173
    • Colville, D.J.1    Savige, J.2
  • 21
    • 0020626685 scopus 로고
    • Ocular manifestations of Alport's syndrome: A hereditary disorder of basement membranes?
    • Govan, J. A. 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
  • 22
    • 0033999394 scopus 로고    scopus 로고
    • Ocular clues to the nature of disease causing end-stage renal failure
    • Colville, D., Dagher, H., Miach, p. & Savige, J. Ocular clues to the nature of disease causing end-stage renal failure. Nephrol. Dial. transplant. 15, 429-432 (2000).
    • (2000) Nephrol. Dial. Transplant. , vol.15 , pp. 429-432
    • Colville, D.1    Dagher, H.2    Miach, P.3    Savige, J.4
  • 23
    • 46949095475 scopus 로고    scopus 로고
    • The use of ocular abnormalities to diagnose X-linked Alport syndrome in children
    • Zhang, K. W. et al. The use of ocular abnormalities to diagnose X-linked Alport syndrome in children. Pediatr. Nephrol. 23, 1245-1250 (2008).
    • (2008) Pediatr. Nephrol. , vol.23 , pp. 1245-1250
    • Zhang, K.W.1
  • 24
  • 25
    • 61749096175 scopus 로고    scopus 로고
    • The retinal 'lozenge' or 'dull macular reflex' in Alport syndrome is associated with a severe retinopathy and early onset renal failure
    • [doi:10.1136/bjo.2008.142869]
    • Colville, D., Wang, Y. Y., Tan, R. & Savige, J. The retinal 'lozenge' or 'dull macular reflex' in Alport syndrome is associated with a severe retinopathy and early onset renal failure. BR. J. Ophthalmol. [doi:10.1136/bjo.2008.142869] (2008).
    • (2008) BR. J. Ophthalmol.
    • Colville, D.1    Wang, Y.Y.2    Tan, R.3    Savige, J.4
  • 26
    • 33846020929 scopus 로고    scopus 로고
    • Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome
    • Shaw, E. A. et al. Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. Nephrol. Dial. transplant. 22, 104-108 (2007).
    • (2007) Nephrol. Dial. Transplant. , vol.22 , pp. 104-108
    • Shaw, E.A.1
  • 27
    • 0023032361 scopus 로고
    • Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport- type familial nephritis
    • Kashtan, C. E., Fish, A. J., Kleppel, M., Yoshioka, K. & Michael, A. F. Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport- type familial nephritis. J. Clin. Invest. 78, 1035-1044 (1986).
    • (1986) J. Clin. Invest. , vol.78 , pp. 1035-1044
    • Kashtan, C.E.1    Fish, A.J.2    Kleppel, M.3    Yoshioka, K.4    Michael, A.F.5
  • 28
    • 85058202622 scopus 로고    scopus 로고
    • Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 hair root cDNA samples
    • Tazon-Vega, B. et al. Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 hair root cDNA samples. Am. J. Kidney Dis. 50, 257-269 (2007).
    • (2007) Am. J. Kidney Dis. , vol.50 , pp. 257-269
    • Tazon-Vega, B.1
  • 29
    • 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
  • 30
    • 0029975894 scopus 로고    scopus 로고
    • Alport's syndrome with bilateral macular hole
    • mete, U. O. et al. Alport's syndrome with bilateral macular holE. Acta Ophthalmol. Scand. 74, 77-80 (1996).
    • (1996) Acta Ophthalmol. Scand. , vol.74 , pp. 77-80
    • Mete, U.O.1
  • 31
    • 0037299826 scopus 로고    scopus 로고
    • Vitreoretinal degeneration complicated by retinal detachment in Alport syndrome
    • Shaikh, S., Garretson, B. & Willliams, G. A. 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    Willliams, G.A.3
  • 32
    • 10644243469 scopus 로고    scopus 로고
    • Symmetrical reduced retinal thickness in a patient with Alport syndrome
    • Usui, T. et al. 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
  • 33
    • 0029094854 scopus 로고
    • Clinical features and pathogenesis of Alport retinopathy
    • Gehrs, K. M., Pollock, S. C. & Zilkha, G. Clinical features and pathogenesis of Alport retinopathy. Retina 15, 305-311 (1995).
    • (1995) Retina , vol.15 , pp. 305-311
    • Gehrs, K.M.1    Pollock, S.C.2    Zilkha, G.3
  • 34
    • 0026000986 scopus 로고
    • Posterior polymorphous dystrophy and Alport syndrome
    • Teekhasaenee, C. et al. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology 98, 1207-1215 (1991).
    • (1991) Ophthalmology , vol.98 , pp. 1207-1215
    • Teekhasaenee, C.1
  • 35
    • 0031181897 scopus 로고    scopus 로고
    • Recurrent corneal erosion associated with Alport's syndrome
    • Rhys, C., Snyers, B. & Pirson, Y. recurrent corneal erosion associated with Alport's syndrome. Kidney Int. 52, 208-211 (1997).
    • (1997) Kidney Int. , vol.52 , pp. 208-211
    • Rhys, C.1    Snyers, B.2    Pirson, Y.3
  • 37
    • 2442627467 scopus 로고    scopus 로고
    • Visual impairment caused by retinal abnormalities in mesangiocapillary (membranoproliferative) glomerulonephritis type ii ("dense deposit disease")
    • Colville, D., Guymer, R., Sinclair, R. A. & Savige, J. A. Visual impairment caused by retinal abnormalities in mesangiocapillary (membranoproliferative) glomerulonephritis type ii ("dense deposit disease"). Am. J. Kidney Dis. 42, e2-e5 (2003).
    • (2003) Am. J. Kidney Dis. , vol.42
    • Colville, D.1    Guymer, R.2    Sinclair, R.A.3    Savige, J.A.4
  • 38
    • 0034954060 scopus 로고    scopus 로고
    • Structure and composition of drusen associated with glomerulonephritis: Implications for the role of complement activation in drusen biogenesis
    • Mullins, R. F., Aptsiauri, N. & Hageman, G. S. Structure and composition of drusen associated with glomerulonephritis: Implications for the role of complement activation in drusen biogenesis. Eye 15, 390-395 (2001).
    • (2001) Eye , vol.15 , pp. 390-395
    • Mullins, R.F.1    Aptsiauri, N.2    Hageman, G.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.