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Volumn 136, Issue , 2001, Pages 79-99

Familial hematuric syndromes - Alport syndrome, thin glomerular basement membrane disease and Fechtner/Epstein syndromes

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4;

EID: 0035537907     PISSN: 03025144     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Article
Times cited : (14)

References (106)
  • 1
    • 0020029395 scopus 로고
    • Familial glomerular disease
    • Basel, Karger
    • Waldherr R: Familial glomerular disease. Contrib Nephrol. Basel, Karger, 1982, vol 33, pp 104-121.
    • (1982) Contrib Nephrol , vol.33 , pp. 104-121
    • Waldherr, R.1
  • 2
    • 0031965358 scopus 로고    scopus 로고
    • Frequency of renal diseases and clinical indications for renal biopsy in children (report of the Italian National Registry of Renal Biopsies in Children)
    • Coppo R, Gianoglio B, Porcellini MG, Maringhini S: Frequency of renal diseases and clinical indications for renal biopsy in children (report of the Italian National Registry of Renal Biopsies in Children). Nephrol Dial Transplant 1998;13:293-297.
    • (1998) Nephrol Dial Transplant , vol.13 , pp. 293-297
    • Coppo, R.1    Gianoglio, B.2    Porcellini, M.G.3    Maringhini, S.4
  • 4
    • 0025371595 scopus 로고
    • Thin basement membrane nephropathy as a cause of recurrent haematuria in childhood
    • Lang S, Stevenson B, Risdon RA: Thin basement membrane nephropathy as a cause of recurrent haematuria in childhood. Histopathology 1990;16:331-337.
    • (1990) Histopathology , vol.16 , pp. 331-337
    • Lang, S.1    Stevenson, B.2    Risdon, R.A.3
  • 5
    • 0021328693 scopus 로고
    • Isolated hematuria in children: Indications for a renal biopsy
    • Trachtman H, Weiss R, Bennett B, Griefer I: Isolated hematuria in children: Indications for a renal biopsy. Kidney Int 1984;25:94-99.
    • (1984) Kidney Int , vol.25 , pp. 94-99
    • Trachtman, H.1    Weiss, R.2    Bennett, B.3    Griefer, I.4
  • 7
    • 0018868946 scopus 로고
    • Diagnosis of hereditary nephritis by failure of glomeruli to bind anti-glomerular basement membrane antibodies
    • Olson DL, Anand SK, Landing BH, Heuser E, Grushkin CM, Lieberman E: Diagnosis of hereditary nephritis by failure of glomeruli to bind anti-glomerular basement membrane antibodies. J Pediatr 1980;96:697-699.
    • (1980) J Pediatr , vol.96 , pp. 697-699
    • Olson, D.L.1    Anand, S.K.2    Landing, B.H.3    Heuser, E.4    Grushkin, C.M.5    Lieberman, E.6
  • 8
    • 0020076881 scopus 로고
    • Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis
    • McCoy RC, Johnson HK, Stone WJ, Wilson CB: Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis. Kidney Int 1982;21:642-652.
    • (1982) Kidney Int , vol.21 , pp. 642-652
    • McCoy, R.C.1    Johnson, H.K.2    Stone, W.J.3    Wilson, C.B.4
  • 9
    • 0023032361 scopus 로고
    • Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis
    • Kashtan C, Fish AJ, Kleppel M, Yoshioka K, Michael AF: Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis. J Clin Invest 1986;78:1035-1044.
    • (1986) J Clin Invest , vol.78 , pp. 1035-1044
    • Kashtan, C.1    Fish, A.J.2    Kleppel, M.3    Yoshioka, K.4    Michael, A.F.5
  • 12
    • 0023193901 scopus 로고
    • Alport familial nephritis: Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane
    • Kleppel MM, Kashtan CE, Butkowski RJ, Fish AJ, Michael AF: Alport familial nephritis: Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane. J Clin Invest 1987;80:263-266.
    • (1987) J Clin Invest , vol.80 , pp. 263-266
    • Kleppel, M.M.1    Kashtan, C.E.2    Butkowski, R.J.3    Fish, A.J.4    Michael, A.F.5
  • 13
    • 0025174012 scopus 로고
    • Identification of a distinct type IV collagen a chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome
    • Hostikka SL, Eddy RL, Byers MG, Hoyhtya M, Shows TB, Tryggvason K: Identification of a distinct type IV collagen a chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc Natl Acad Sci USA 1990;87: 1606-1610.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 1606-1610
    • Hostikka, S.L.1    Eddy, R.L.2    Byers, M.G.3    Hoyhtya, M.4    Shows, T.B.5    Tryggvason, K.6
  • 16
    • 0001051997 scopus 로고
    • Alport syndrome
    • Schrier RW, Gottschalk CW (eds): Boston, Little Brown
    • Gregory MC, Atkin CL: Alport syndrome; in Schrier RW, Gottschalk CW (eds): Diseases of the Kidney. Boston, Little Brown, 1993, pp 571-591.
    • (1993) Diseases of the Kidney , pp. 571-591
    • Gregory, M.C.1    Atkin, C.L.2
  • 17
    • 0028305707 scopus 로고
    • Complete primary structure of the sixth chain of human basement membrane collagen, α6(IV)
    • Zhou J, Ding M, Zhao Z, Reeders ST: Complete primary structure of the sixth chain of human basement membrane collagen, α6(IV). J Biol Chem 1994;269:13193-13199.
    • (1994) J Biol Chem , vol.269 , pp. 13193-13199
    • Zhou, J.1    Ding, M.2    Zhao, Z.3    Reeders, S.T.4
  • 19
    • 0026704436 scopus 로고
    • Colocalization of the genes for the α3(IV) and α4(IV) chains of type IV collagen to chromosome 2 bands q35-q37
    • Mariyama M, Zheng K, Yang-Feng TL, Reeders ST: Colocalization of the genes for the α3(IV) and α4(IV) chains of type IV collagen to chromosome 2 bands q35-q37. Genomics 1992;13: 809-813.
    • (1992) Genomics , vol.13 , pp. 809-813
    • Mariyama, M.1    Zheng, K.2    Yang-Feng, T.L.3    Reeders, S.T.4
  • 20
    • 0028080793 scopus 로고
    • The genes COL4A5 and COL4A6, coding for basement membrane collagen chains α5(IV) and α6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters
    • Sugimoto M, Oohashi T, Ninomiya Y: The genes COL4A5 and COL4A6, coding for basement membrane collagen chains α5(IV) and α6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters. Proc Natl Acad Sci USA 1994;91:11679-11683.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 11679-11683
    • Sugimoto, M.1    Oohashi, T.2    Ninomiya, Y.3
  • 21
    • 0034730769 scopus 로고    scopus 로고
    • Type IV collagen of the glomerular basement membrane: Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains
    • Boutaud A, Borza DB, Bondar O, Gunwar S, Netzer KO, Singh N, Ninomiya Y, Sado Y, Noelken ME, Hudson BG: Type IV collagen of the glomerular basement membrane: Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains. J Biol Chem 2000;275:30716-30724.
    • (2000) J Biol Chem , vol.275 , pp. 30716-30724
    • Boutaud, A.1    Borza, D.B.2    Bondar, O.3    Gunwar, S.4    Netzer, K.O.5    Singh, N.6    Ninomiya, Y.7    Sado, Y.8    Noelken, M.E.9    Hudson, B.G.10
  • 28
    • 0033361022 scopus 로고    scopus 로고
    • LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis
    • Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, Zhou J: LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am J Hum Genet 1999;64:62-69.
    • (1999) Am J Hum Genet , vol.64 , pp. 62-69
    • Segal, Y.1    Peissel, B.2    Renieri, A.3    De Marchi, M.4    Ballabio, A.5    Pei, Y.6    Zhou, J.7
  • 30
    • 0003096348 scopus 로고
    • Molecular and aggregate structures of the collagens
    • Piez KA, Reddi AH (eds): New York, Elsevier
    • Piez KA: Molecular and aggregate structures of the collagens; in Piez KA, Reddi AH (eds): Extracellular Matrix Biochemistry. New York, Elsevier, 1984, pp 1-39.
    • (1984) Extracellular Matrix Biochemistry , pp. 1-39
    • Piez, K.A.1
  • 31
    • 0030955414 scopus 로고    scopus 로고
    • Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IV), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels
    • Kuvaniemi H, Tromp G, Prockop DJ: Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IV), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 1997;9:300-315.
    • (1997) Hum Mutat , vol.9 , pp. 300-315
    • Kuvaniemi, H.1    Tromp, G.2    Prockop, D.J.3
  • 32
    • 0026565295 scopus 로고
    • Mutations in collagen genes as a cause of connective-tissue diseases
    • Prockop DJ: Mutations in collagen genes as a cause of connective-tissue diseases. N Engl J Med 1992;326:540-546.
    • (1992) N Engl J Med , vol.326 , pp. 540-546
    • Prockop, D.J.1
  • 35
    • 0029060924 scopus 로고
    • Autosomal recessive Alport syndrome: Mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis
    • Ding J, Stitzel J, Berry P, Hawkins E, Kashtan C: Autosomal recessive Alport syndrome: Mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. J Am Soc Nephrol 1995;5:1714-1717.
    • (1995) J Am Soc Nephrol , vol.5 , pp. 1714-1717
    • Ding, J.1    Stitzel, J.2    Berry, P.3    Hawkins, E.4    Kashtan, C.5
  • 43
    • 0032908591 scopus 로고    scopus 로고
    • Ocular findings in 34 patients with Alport syndrome: Correlation of the findings to mutations in COL4A5 gene
    • Pajari H, Setala K, Heiskari N, Kaarianen H, Rosenlof K, Koskimies O: Ocular findings in 34 patients with Alport syndrome: Correlation of the findings to mutations in COL4A5 gene. Acta Ophthalmol Scand 1999;77:214-217.
    • (1999) Acta Ophthalmol Scand , vol.77 , pp. 214-217
    • Pajari, H.1    Setala, K.2    Heiskari, N.3    Kaarianen, H.4    Rosenlof, K.5    Koskimies, O.6
  • 44
    • 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 1997;18:161-173.
    • (1997) Ophthalmic Genet , vol.18 , pp. 161-173
    • Colville, D.J.1    Savige, J.2
  • 46
    • 0017884098 scopus 로고
    • Lenticonus anterior and Alport's syndrome
    • Nielsen CE: Lenticonus anterior and Alport's syndrome. Arch Ophthalmol 1978;56:518-530.
    • (1978) Arch Ophthalmol , vol.56 , pp. 518-530
    • Nielsen, C.E.1
  • 47
    • 0000660838 scopus 로고
    • Anterior lenticonus in familial hemorrhagic nephritis: Demonstration of lens pathology
    • Brownell RD, Wolter JR: Anterior lenticonus in familial hemorrhagic nephritis: Demonstration of lens pathology. Arch Ophthalmol 1964;71:481-483.
    • (1964) Arch Ophthalmol , vol.71 , pp. 481-483
    • Brownell, R.D.1    Wolter, J.R.2
  • 49
    • 0031767526 scopus 로고    scopus 로고
    • The ultrastructure of the lens capsule abnormalities in Alport's syndrome
    • KatoT, WatanabeY, Nakayasu K, Kanai A, YajimaY: The ultrastructure of the lens capsule abnormalities in Alport's syndrome. Jpn J Ophthalmol 1998;42:401-405.
    • (1998) Jpn J Ophthalmol , vol.42 , pp. 401-405
    • Kato, T.1    Watanabe, Y.2    Nakayasu, K.3    Kanai, A.4    Yajima, Y.5
  • 54
    • 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 1997;52:208-211.
    • (1997) Kidney Int , vol.52 , pp. 208-211
    • Rhys, C.1    Snyers, B.2    Pirson, Y.3
  • 55
    • 0025955640 scopus 로고
    • Recurrent corneal epithelial erosions in Alport's syndrome
    • Burke JP, Clearkin LG, Talbot JF: Recurrent corneal epithelial erosions in Alport's syndrome. Acta Ophthalmol 1991;69:555-557.
    • (1991) Acta Ophthalmol , vol.69 , pp. 555-557
    • Burke, J.P.1    Clearkin, L.G.2    Talbot, J.F.3
  • 56
    • 0029686702 scopus 로고    scopus 로고
    • Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis
    • Basel, Karger
    • Antignac C, Heidet L: Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis. Contrib Nephrol. Basel, Karger, 1996, vol 117, pp 172-182.
    • (1996) Contrib Nephrol , vol.117 , pp. 172-182
    • Antignac, C.1    Heidet, L.2
  • 58
    • 0029690028 scopus 로고    scopus 로고
    • Immunohistologic findings in Alport syndrome
    • Basel, Karger
    • Kashtan CE, Kleppel MM, Gubler MC: Immunohistologic findings in Alport syndrome. Contrib Nephrol. Basel, Karger, 1996, vol 117, pp 142-153.
    • (1996) Contrib Nephrol , vol.117 , pp. 142-153
    • Kashtan, C.E.1    Kleppel, M.M.2    Gubler, M.C.3
  • 62
    • 0015421264 scopus 로고
    • Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome)
    • Hinglais N, Grunfeld JP, Bois LE: Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome). Lab Invest 1972;27: 473-487.
    • (1972) Lab Invest , vol.27 , pp. 473-487
    • Hinglais, N.1    Grunfeld, J.P.2    Bois, L.E.3
  • 63
    • 0015428067 scopus 로고
    • Alport's syndrome: Emphasizing electron microscopic studies of the glomerulus
    • Spear GS, Slusser RJ: Alport's syndrome: Emphasizing electron microscopic studies of the glomerulus. Am J, Pathol 1972;69:213-222.
    • (1972) Am J Pathol , vol.69 , pp. 213-222
    • Spear, G.S.1    Slusser, R.J.2
  • 64
    • 0015874467 scopus 로고
    • Pathologic characteristics of hereditary nephritis
    • Churg J, Sherman RL: Pathologic characteristics of hereditary nephritis. Arch Pathol 1973;95: 374-379.
    • (1973) Arch Pathol , vol.95 , pp. 374-379
    • Churg, J.1    Sherman, R.L.2
  • 65
    • 0023605514 scopus 로고
    • Alport's syndrome: Specificity and pathogenesis of glomerular basement membrane alterations
    • Rumpelt HJ: Alport's syndrome: Specificity and pathogenesis of glomerular basement membrane alterations. Pediatr Nephrol 1987;l:422-427.
    • (1987) Pediatr Nephrol , vol.50 , pp. 422-427
    • Rumpelt, H.J.1
  • 66
    • 0022977887 scopus 로고
    • Samoyed hereditary glomerulopathy (SHG): Evolution of splitting of glomerular capillary basement membranes
    • Jansen B, Thorner P, Baumal R, Valu V, Maxie MG, Singh A: Samoyed hereditary glomerulopathy (SHG): Evolution of splitting of glomerular capillary basement membranes. Am J Pathol 1986; 125:536-545.
    • (1986) Am J Pathol , vol.125 , pp. 536-545
    • Jansen, B.1    Thorner, P.2    Baumal, R.3    Valu, V.4    Maxie, M.G.5    Singh, A.6
  • 67
    • 0018942488 scopus 로고
    • Hereditary nephropathy (Alport syndrome): Correlation of clinical data with glomerular basement membrane alterations
    • Rumpelt HJ: Hereditary nephropathy (Alport syndrome): Correlation of clinical data with glomerular basement membrane alterations. Clin Nephrol 1980;13:203-207.
    • (1980) Clin Nephrol , vol.13 , pp. 203-207
    • Rumpelt, H.J.1
  • 69
    • 0029557146 scopus 로고
    • Renal allograft survival according to primary diagnosis: A report of the North American Pediatric Renal Transplant Cooperative Study
    • Kashtan CE, McEnery PT, Tejani A, Stablein DM: Renal allograft survival according to primary diagnosis: A report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Nephrol 1995;9:679-684.
    • (1995) Pediatr Nephrol , vol.9 , pp. 679-684
    • Kashtan, C.E.1    McEnery, P.T.2    Tejani, A.3    Stablein, D.M.4
  • 70
    • 0032823921 scopus 로고    scopus 로고
    • Alport syndrome: An inherited disorder of renal, ocular and cochlear basement membranes
    • Kashtan CE: Alport syndrome: An inherited disorder of renal, ocular and cochlear basement membranes. Medicine 1999;78:338-360.
    • (1999) Medicine , vol.78 , pp. 338-360
    • Kashtan, C.E.1
  • 73
    • 0032986645 scopus 로고    scopus 로고
    • Long-term effects of cyclosporine A in Alport's syndrome
    • Callis L, Vila A, Carrera M, Nieto J: Long-term effects of cyclosporine A in Alport's syndrome. Kidney Int 1999;55:1051-1056.
    • (1999) Kidney Int , vol.55 , pp. 1051-1056
    • Callis, L.1    Vila, A.2    Carrera, M.3    Nieto, J.4
  • 74
    • 0026605086 scopus 로고
    • Effect of cyclosporin A on proteinuria in patients with Alport's syndrome
    • Callis L, Vila A, Nieto J, Fortuny G: Effect of cyclosporin A on proteinuria in patients with Alport's syndrome. Pediatr Nephrol 1992;6:140-144.
    • (1992) Pediatr Nephrol , vol.6 , pp. 140-144
    • Callis, L.1    Vila, A.2    Nieto, J.3    Fortuny, G.4
  • 75
    • 0031747294 scopus 로고
    • Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations
    • Mazzucco G, Barsotti P, Muda AO, Fortunato M, Mihatsch M, Torri-Tarelli L, Renieri A, Faraggiana T, De Marchi M, Monga G: Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations. J Am Soc Nephrol 1988;9:1023-1031.
    • (1988) J Am Soc Nephrol , vol.9 , pp. 1023-1031
    • Mazzucco, G.1    Barsotti, P.2    Muda, A.O.3    Fortunato, M.4    Mihatsch, M.5    Torri-Tarelli, L.6    Renieri, A.7    Faraggiana, T.8    De Marchi, M.9    Monga, G.10
  • 76
    • 0034186373 scopus 로고    scopus 로고
    • Psychosocial impact of an X-linked hereditary disease: A study of Alport syndrome patients and family members
    • Pajari H, Sinkkonen J: Psychosocial impact of an X-linked hereditary disease: A study of Alport syndrome patients and family members. Child Care Health Dev 2000;26:239-250.
    • (2000) Child Care Health Dev , vol.26 , pp. 239-250
    • Pajari, H.1    Sinkkonen, J.2
  • 81
    • 0028331927 scopus 로고
    • Canine X-chromosome-linked hereditary nephritis: A genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the α5 chain of collagen type IV
    • Zheng K, Thorner PS, Marrano P, Baumal R, McInnes RR: Canine X-chromosome-linked hereditary nephritis: A genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the α5 chain of collagen type IV Proc Natl Acad Sci USA 1994;91:3989-3993.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 3989-3993
    • Zheng, K.1    Thorner, P.S.2    Marrano, P.3    Baumal, R.4    McInnes, R.R.5
  • 84
    • 0030457613 scopus 로고    scopus 로고
    • Molecular and functional defects in kidneys of mice lacking collagen a3(IV): Implications for Alport syndrome
    • Miner JJ, Sanes JR: Molecular and functional defects in kidneys of mice lacking collagen a3(IV): Implications for Alport syndrome. J Cell Biol 1996; 135:1403-1413.
    • (1996) J Cell Biol , vol.135 , pp. 1403-1413
    • Miner, J.J.1    Sanes, J.R.2
  • 85
    • 0025784274 scopus 로고
    • Dietary modification reduces splitting of glomerular basement membranes and delays death due to renal failure in canine X-linked hereditary nephritis
    • Valli VEO, Baumal R, Thorner P, Jacobs R, Marrano P, Davies C, Qizilbash B, Clarke H: Dietary modification reduces splitting of glomerular basement membranes and delays death due to renal failure in canine X-linked hereditary nephritis. Lab Invest 1991;65:67-73.
    • (1991) Lab Invest , vol.65 , pp. 67-73
    • Valli, V.E.O.1    Baumal, R.2    Thorner, P.3    Jacobs, R.4    Marrano, P.5    Davies, C.6    Qizilbash, B.7    Clarke, H.8
  • 87
    • 0033966792 scopus 로고    scopus 로고
    • Animal models of Alport syndrome: Advancing the prospects for effective human gene therapy
    • Heikkila P, Tryggvason K, Thorner P: Animal models of Alport syndrome: advancing the prospects for effective human gene therapy. Exp Nephrol 2000;8:1-7.
    • (2000) Exp Nephrol , vol.8 , pp. 1-7
    • Heikkila, P.1    Tryggvason, K.2    Thorner, P.3
  • 88
    • 0023893966 scopus 로고
    • Establishing the diagnosis of benign familial hematuria: The importance of examining the urine sediment of family members
    • Blumenthal SS, Fritsche C, Lemann J: Establishing the diagnosis of benign familial hematuria: The importance of examining the urine sediment of family members. JAMA 1988;259:2263-2266.
    • (1988) JAMA , vol.259 , pp. 2263-2266
    • Blumenthal, S.S.1    Fritsche, C.2    Lemann, J.3
  • 91
    • 0022003679 scopus 로고
    • Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults
    • Dische FE, Weston MJ, Parsons V: Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults. Am J Nephrol 1985;5:103-109.
    • (1985) Am J Nephrol , vol.5 , pp. 103-109
    • Dische, F.E.1    Weston, M.J.2    Parsons, V.3
  • 93
    • 0030900198 scopus 로고    scopus 로고
    • Thin GBM nephropathy: Premature glomerular obsolescence is associated with hypertension and late onset renal failure
    • Nieuwhof CM, de Heer F, de Leeuw P, van Breda Vriesman PJ: Thin GBM nephropathy: Premature glomerular obsolescence is associated with hypertension and late onset renal failure. Kidney Int 1997;51:1596-1601.
    • (1997) Kidney Int , vol.51 , pp. 1596-1601
    • Nieuwhof, C.M.1    De Heer, F.2    De Leeuw, P.3    Van Breda Vriesman, P.J.4
  • 94
    • 0028070269 scopus 로고
    • Association of thin glomerular basement membrane with other glomerulopathies
    • Cosio FG, Falkenhain ME, Sedmak DD: Association of thin glomerular basement membrane with other glomerulopathies. Kidney Int 1994;46:471-474.
    • (1994) Kidney Int , vol.46 , pp. 471-474
    • Cosio, F.G.1    Falkenhain, M.E.2    Sedmak, D.D.3
  • 95
    • 0023543664 scopus 로고
    • Glomerular basement membrane and lamina densa in infants and children: An ultrastructural evaluation
    • Vogler C, McAdams AJ, Homan SM: Glomerular basement membrane and lamina densa in infants and children: An ultrastructural evaluation. Pediatr Pathol 1987;7:527-534.
    • (1987) Pediatr Pathol , vol.7 , pp. 527-534
    • Vogler, C.1    McAdams, A.J.2    Homan, S.M.3
  • 97
    • 0026534037 scopus 로고
    • Measurement of glomerular basement membrane thickness and its application to the diagnosis of thin-membrane nephropathy
    • Dische FE: Measurement of glomerular basement membrane thickness and its application to the diagnosis of thin-membrane nephropathy. Arch Pathol Lab Med 1992;116:43-49.
    • (1992) Arch Pathol Lab Med , vol.116 , pp. 43-49
    • Dische, F.E.1
  • 98
    • 0021691752 scopus 로고
    • Electron microscopy for measurement of glomerular basement membrane width in children with benign familial hematuria
    • Milanesi C, Rizzoni G, Braggion F, Galdiolo D: Electron microscopy for measurement of glomerular basement membrane width in children with benign familial hematuria. Appl Pathol 1984;2:199-204.
    • (1984) Appl Pathol , vol.2 , pp. 199-204
    • Milanesi, C.1    Rizzoni, G.2    Braggion, F.3    Galdiolo, D.4
  • 100
    • 0021956321 scopus 로고
    • Fechtner syndrome: A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopathia
    • Peterson LC, Rao KV, Crosson JT, White JG: Fechtner syndrome: A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopathia. Blood 1985;65:397-406.
    • (1985) Blood , vol.65 , pp. 397-406
    • Peterson, L.C.1    Rao, K.V.2    Crosson, J.T.3    White, J.G.4
  • 103
    • 0033365059 scopus 로고    scopus 로고
    • Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q l1-13
    • Toren A, Amariglio N, Rozenfeld-Granot G, Simon AJ, Frok-Simoni F, Pras E, Rechavi G: Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q l1-13. Am J Hum Genet 1999;65:1711-1717.
    • (1999) Am J Hum Genet , vol.65 , pp. 1711-1717
    • Toren, A.1    Amariglio, N.2    Rozenfeld-Granot, G.3    Simon, A.J.4    Frok-Simoni, F.5    Pras, E.6    Rechavi, G.7
  • 105
    • 0033812573 scopus 로고    scopus 로고
    • Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
    • The May-Hegglin/Fechtner Syndrome Consortium: Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nat Genet 2000;26:103-105.
    • (2000) Nat Genet , vol.26 , pp. 103-105


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.