메뉴 건너뛰기




Volumn 133, Issue 2, 2009, Pages 224-232

Alport syndrome and thin glomerular basement membrane nephropathy a practical approach to diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA3 CHAIN; COLLAGEN TYPE 4 ALPHA5 CHAIN; UNCLASSIFIED DRUG;

EID: 60149106148     PISSN: 00039985     EISSN: 15432165     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (105)

References (59)
  • 1
    • 0019449140 scopus 로고
    • Alport's syndrome: A report of 58 cases and a review of the literature
    • Gubler M, Levy M, Broyer M, et al. Alport's syndrome: a report of 58 cases and a review of the literature. Am J Med. 1981;70:493-505.
    • (1981) Am J Med , vol.70 , pp. 493-505
    • Gubler, M.1    Levy, M.2    Broyer, M.3
  • 3
    • 0022542195 scopus 로고
    • Genetic heterogeneity among kindreds with Alport syndrome
    • Hasstedt SJ, Atkin CL, San Juan AC. Genetic heterogeneity among kindreds with Alport syndrome. Am J Human Genet. 1986;38:940-953.
    • (1986) Am J Human Genet , vol.38 , pp. 940-953
    • Hasstedt, S.J.1    Atkin, C.L.2    San Juan, A.C.3
  • 6
    • 0017591310 scopus 로고
    • Alport's syndrome: Case report and review of ocular manifestations
    • Chance JK, Stanley JA. Alport's syndrome: case report and review of ocular manifestations. Ann Ophthalmol. 1977;9:1527-1530.
    • (1977) Ann Ophthalmol , vol.9 , pp. 1527-1530
    • Chance, J.K.1    Stanley, J.A.2
  • 7
    • 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
  • 9
    • 0031720662 scopus 로고    scopus 로고
    • Alport syndrome and thin glomerular basement membrane disease
    • Kashtan CE. Alport syndrome and thin glomerular basement membrane disease. J Am Soc Nephrol. 1998;9:1736-1750.
    • (1998) J Am Soc Nephrol , vol.9 , pp. 1736-1750
    • Kashtan, C.E.1
  • 11
    • 34249311803 scopus 로고    scopus 로고
    • Alport's syndrome, thin basementmembrane nephropathy, nail-patella syndrome, and type III collagen glomerulopathy
    • Jennette JC, Olson JL, Schwartz MM, Silva FG, eds, 6th ed. Philadelphia, Pa: Lippincott Williams & Wilkins;
    • Gubler MC, HeidetL, Antignac C. Alport's syndrome, thin basementmembrane nephropathy, nail-patella syndrome, and type III collagen glomerulopathy. In: Jennette JC, Olson JL, Schwartz MM, Silva FG, eds. Heptinstalls Pathology of the Kidney. 6th ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2007:487-515.
    • (2007) Heptinstalls Pathology of the Kidney , pp. 487-515
    • Gubler, M.C.1    Heidet, L.2    Antignac, C.3
  • 14
    • 0035163168 scopus 로고    scopus 로고
    • Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome
    • Heidet L, Arrondel C, Forestier L, et al. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J Am Soc Nephrol. 2001;12:97-106.
    • (2001) J Am Soc Nephrol , vol.12 , pp. 97-106
    • Heidet, L.1    Arrondel, C.2    Forestier, L.3
  • 15
    • 0030789006 scopus 로고    scopus 로고
    • 4 genes (COL4A3 and COL4A4). Nephrol Dial Transplant. 1997;12:1595-1 599.
    • 4 genes (COL4A3 and COL4A4). Nephrol Dial Transplant. 1997;12:1595-1 599.
  • 16
    • 0034791624 scopus 로고    scopus 로고
    • 44(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolemia
    • 44(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolemia. Nephrol Dial Transplant. 2001;16:2008-2012.
    • (2001) Nephrol Dial Transplant , vol.16 , pp. 2008-2012
    • Ciccarese, M.1    Casu, D.2    Ki Wong, F.3
  • 17
    • 0033746069 scopus 로고    scopus 로고
    • Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation
    • van der Loop FTL, Heidet L, Timmer EDJ, et al. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int. 2000;58:1870-1875.
    • (2000) Kidney Int , vol.58 , pp. 1870-1875
    • van der Loop, F.T.L.1    Heidet, L.2    Timmer, E.D.J.3
  • 18
    • 0035721629 scopus 로고    scopus 로고
    • A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome
    • Dagher H, Buzza M, Colville D, et al. A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome. Am J Kidney Dis. 2001;38:1217-1228.
    • (2001) Am J Kidney Dis , vol.38 , pp. 1217-1228
    • Dagher, H.1    Buzza, M.2    Colville, D.3
  • 19
    • 0036692469 scopus 로고    scopus 로고
    • Histopathology, ultrastructure, and clinical phenotypes in thin glomerular basement membrane disease variants
    • Liapis H, Gokden N, Hmiel P, Miner JH. Histopathology, ultrastructure, and clinical phenotypes in thin glomerular basement membrane disease variants. Hum Pathol. 2002;33:836-845.
    • (2002) Hum Pathol , vol.33 , pp. 836-845
    • Liapis, H.1    Gokden, N.2    Hmiel, P.3    Miner, J.H.4
  • 20
    • 0030900198 scopus 로고    scopus 로고
    • Thin GBM nephropathy: Premature glomerular obsolescence is associated with hypertension and late onset renal failure
    • Nieuwhof CMG, de Heer F, de Leeuw P, van Breda Vriesman PJC. 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.G.1    de Heer, F.2    de Leeuw, P.3    van Breda Vriesman, P.J.C.4
  • 22
    • 0034921560 scopus 로고    scopus 로고
    • COL4A4 mutation in thin glomerular basement membrane disease previously described in Alport syndrome
    • Buzza M, Wang YY, Dagher H, et al. COL4A4 mutation in thin glomerular basement membrane disease previously described in Alport syndrome. Kidney Int. 2001;60:480-483.
    • (2001) Kidney Int , vol.60 , pp. 480-483
    • Buzza, M.1    Wang, Y.Y.2    Dagher, H.3
  • 24
    • 0032799090 scopus 로고    scopus 로고
    • Evidence for genetic heterogeneity in benign familial hematuria
    • Piccini M, Casari G, Zhou J, et al. Evidence for genetic heterogeneity in benign familial hematuria. Am J Nephrol. 1999;19:464-467.
    • (1999) Am J Nephrol , vol.19 , pp. 464-467
    • Piccini, M.1    Casari, G.2    Zhou, J.3
  • 25
    • 35848944448 scopus 로고    scopus 로고
    • COLA3/COLA4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy
    • Voskarides K, Damianou L, Neocleous V, et al. COLA3/COLA4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J Am Soc Nephrol. 2007;18:3004-3016.
    • (2007) J Am Soc Nephrol , vol.18 , pp. 3004-3016
    • Voskarides, K.1    Damianou, L.2    Neocleous, V.3
  • 26
    • 33646688707 scopus 로고    scopus 로고
    • Thin glomerular basement membrane nephropathy: Incidence in 3471 consecutive renal biopsies examined by electron microscopy
    • Haas M. Thin glomerular basement membrane nephropathy: incidence in 3471 consecutive renal biopsies examined by electron microscopy. Arch Pathol Lab Med. 2006;130:699-706.
    • (2006) Arch Pathol Lab Med , vol.130 , pp. 699-706
    • Haas, M.1
  • 27
    • 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
  • 28
    • 0020031337 scopus 로고
    • Development of glomerular lesions in experimental long-term diabetes in the rat
    • Hirose K, Osterby R, Nozawa M, Gundersen HJG. Development of glomerular lesions in experimental long-term diabetes in the rat. Kidney Int. 1982; 21:689-695.
    • (1982) Kidney Int , vol.21 , pp. 689-695
    • Hirose, K.1    Osterby, R.2    Nozawa, M.3    Gundersen, H.J.G.4
  • 30
    • 0026559228 scopus 로고
    • Glomerular basement membrane thinning in adults: Clinicopathological correlations of a new diagnostic approach
    • McLay ALC, Jackson R, Meyboom F, Boulton Jones JM. Glomerular basement membrane thinning in adults: clinicopathological correlations of a new diagnostic approach. Nephrol Dial Transplant. 1992;7:191-199.
    • (1992) Nephrol Dial Transplant , vol.7 , pp. 191-199
    • McLay, A.L.C.1    Jackson, R.2    Meyboom, F.3    Boulton Jones, J.M.4
  • 31
    • 0029980214 scopus 로고    scopus 로고
    • Glomerular basement membrane thickness-a comparison of two methods of measurement in patients with unexplained hematuria
    • Das AK, Pickett TM, Tungekar MF. Glomerular basement membrane thickness-a comparison of two methods of measurement in patients with unexplained hematuria. Nephrol Dial Transplant. 1996;11:1256-1260.
    • (1996) Nephrol Dial Transplant , vol.11 , pp. 1256-1260
    • Das, A.K.1    Pickett, T.M.2    Tungekar, M.F.3
  • 32
    • 0023102278 scopus 로고
    • Thin basement membrane syndrome in adults
    • Abe S, Amagasaki Y, Iyori S, et al. Thin basement membrane syndrome in adults. J Clin Pathol. 1987;40:318-322.
    • (1987) J Clin Pathol , vol.40 , pp. 318-322
    • Abe, S.1    Amagasaki, Y.2    Iyori, S.3
  • 33
    • 18844419783 scopus 로고    scopus 로고
    • Pathology of thin basement membrane nephropathy
    • Foster K, Markowitz GS, D'Agati VD. Pathology of thin basement membrane nephropathy. Semin Nephrol. 2005;25:149-158.
    • (2005) Semin Nephrol , vol.25 , pp. 149-158
    • Foster, K.1    Markowitz, G.S.2    D'Agati, V.D.3
  • 34
    • 0029940194 scopus 로고    scopus 로고
    • New subgroup of primary IgA nephritis with thin glomerular basement membrane (GBM): Syndrome or association
    • Berthoux FC, Laurent B, Alamartine E, Diab N. New subgroup of primary IgA nephritis with thin glomerular basement membrane (GBM): syndrome or association. Nephrol Dial Transplant. 1996;11:558-559.
    • (1996) Nephrol Dial Transplant , vol.11 , pp. 558-559
    • Berthoux, F.C.1    Laurent, B.2    Alamartine, E.3    Diab, N.4
  • 35
    • 0023849369 scopus 로고    scopus 로고
    • Taguchi T, von Bassewitz DB, Grundmann E, Takebayashi S. Ultrastructural changes of glomerular basement membrane in IgA nephritis: relationship to hematuria. Ultrastruct Pathol. 1 988;12:17-26.
    • Taguchi T, von Bassewitz DB, Grundmann E, Takebayashi S. Ultrastructural changes of glomerular basement membrane in IgA nephritis: relationship to hematuria. Ultrastruct Pathol. 1 988;12:17-26.
  • 36
    • 0027104775 scopus 로고
    • An overview of renal pathology in insulin-dependent diabetes mellitus in relationship to altered glomerular hemodynamics
    • Fioretto P, Steffes MW, Brown DM, Mauer SM. An overview of renal pathology in insulin-dependent diabetes mellitus in relationship to altered glomerular hemodynamics. Am J Kidney Dis. 1992;20:549-558.
    • (1992) Am J Kidney Dis , vol.20 , pp. 549-558
    • Fioretto, P.1    Steffes, M.W.2    Brown, D.M.3    Mauer, S.M.4
  • 38
    • 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
  • 40
    • 0025582702 scopus 로고
    • Significance of thin glomerular basement membranes in hematuric children
    • Gubler MC, Beaufils H, Noel LH, Habib R. Significance of thin glomerular basement membranes in hematuric children. Contrib Nephrol. 1990;80:147-156.
    • (1990) Contrib Nephrol , vol.80 , pp. 147-156
    • Gubler, M.C.1    Beaufils, H.2    Noel, L.H.3    Habib, R.4
  • 41
    • 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
  • 42
    • 0034164618 scopus 로고    scopus 로고
    • Thin basement membrane disease with heavy proteinuria or nephrotic syndrome at presentation
    • Nogueira M, Cartwright J Jr, Horn K, et al. Thin basement membrane disease with heavy proteinuria or nephrotic syndrome at presentation. Am J Kidney Dis. 2000;35:E15.
    • (2000) Am J Kidney Dis , vol.35
    • Nogueira, M.1    Cartwright Jr, J.2    Horn, K.3
  • 43
    • 4344685290 scopus 로고    scopus 로고
    • Signs and symptoms of thin basement membrane nephropathy: A prospective regional study on primary glomerular disease-the Limburg Renal Registry
    • van Paassen P, van Breda Vriesman PJC, van Rie H, Cohen Tervaert JW. Signs and symptoms of thin basement membrane nephropathy: a prospective regional study on primary glomerular disease-the Limburg Renal Registry. Kidney Int. 2004;66:909-913.
    • (2004) Kidney Int , vol.66 , pp. 909-913
    • van Paassen, P.1    van Breda Vriesman, P.J.C.2    van Rie, H.3    Cohen Tervaert, J.W.4
  • 44
    • 0021680644 scopus 로고
    • Peripheral glomerular capillary wall lesions in IgA nephropathy and their implications
    • Ng WL, Chan KW, Yeung CK, Kwan S. Peripheral glomerular capillary wall lesions in IgA nephropathy and their implications. Pathology. 1984;16:324-330.
    • (1984) Pathology , vol.16 , pp. 324-330
    • Ng, W.L.1    Chan, K.W.2    Yeung, C.K.3    Kwan, S.4
  • 45
    • 0022996477 scopus 로고
    • Lysis of the glomerular basement membrane in children with IgA nephropathy and Henoch-Shonlein nephritis
    • Yoshikawa N, Yoshihara S, Yoshiya K, Matsuo T, Okada S. Lysis of the glomerular basement membrane in children with IgA nephropathy and Henoch-Shonlein nephritis. J Pathol. 1986;150:119-126.
    • (1986) J Pathol , vol.150 , pp. 119-126
    • Yoshikawa, N.1    Yoshihara, S.2    Yoshiya, K.3    Matsuo, T.4    Okada, S.5
  • 46
    • 0019449140 scopus 로고
    • Alport's syndrome: A report of 58 cases and a review of the literature
    • Gubler M, Levy M, Broyer M, et al. Alport's syndrome: a report of 58 cases and a review of the literature. Am J Med. 1981;70:493-505.
    • (1981) Am J Med , vol.70 , pp. 493-505
    • Gubler, M.1    Levy, M.2    Broyer, M.3
  • 47
    • 0014003202 scopus 로고
    • Renal pathology in hereditary nephritis with nerve deafness
    • Krickstein HI, Gloor FJ, Balogh K Jr. Renal pathology in hereditary nephritis with nerve deafness. Arch Pathol. 1966;82:506-517.
    • (1966) Arch Pathol , vol.82 , pp. 506-517
    • Krickstein, H.I.1    Gloor, F.J.2    Balogh Jr., K.3
  • 48
    • 0020035692 scopus 로고
    • Familial hematuria: Clinico-pathological correlations
    • Yoshikawa N, White RHR, Cameron AH. Familial hematuria: clinico-pathological correlations. Clin Nephrol. 1982;17:172-182.
    • (1982) Clin Nephrol , vol.17 , pp. 172-182
    • Yoshikawa, N.1    White, R.H.R.2    Cameron, A.H.3
  • 49
    • 0015421264 scopus 로고
    • Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome)
    • Hinglais N, Grunfeld JP, Bois E. 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, E.3
  • 50
    • 0018942488 scopus 로고
    • Hereditary nephropathy (Alportsyndrome): Correlation ofclin- ical data with glomerular basement membrane alterations
    • Rumpelt HJ. Hereditary nephropathy (Alportsyndrome): correlation ofclin- ical data with glomerular basement membrane alterations. Clin Nephrol. 1980;13:203-207.
    • (1980) Clin Nephrol , vol.13 , pp. 203-207
    • Rumpelt, H.J.1
  • 51
    • 0031747294 scopus 로고    scopus 로고
    • Ultrastructural and immunohis-tochemical 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, et al. Ultrastructural and immunohis-tochemical 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. 1998;9:1023-1031.
    • (1998) J Am Soc Nephrol , vol.9 , pp. 1023-1031
    • Mazzucco, G.1    Barsotti, P.2    Muda, A.O.3
  • 52
    • 0032903298 scopus 로고    scopus 로고
    • Diffuse glomerular basement membrane lamellation in renal allografts from pediatric donors to adult recipients
    • Nadasdy T, Abdi R, Pitha J, Slakey D, Racusen L. Diffuse glomerular basement membrane lamellation in renal allografts from pediatric donors to adult recipients. Am J Surg Pathol. 1999;23:437-442.
    • (1999) Am J Surg Pathol , vol.23 , pp. 437-442
    • Nadasdy, T.1    Abdi, R.2    Pitha, J.3    Slakey, D.4    Racusen, L.5
  • 53
    • 0016200996 scopus 로고
    • The nonspecificity of the ultrastructural alterations in hereditary nephritis with additional observations on benign familial hematuria
    • Hill GS, Jenis EH, Goodloe S Jr. The nonspecificity of the ultrastructural alterations in hereditary nephritis with additional observations on benign familial hematuria. Lab Invest. 1974;31:516-532.
    • (1974) Lab Invest , vol.31 , pp. 516-532
    • Hill, G.S.1    Jenis, E.H.2    Goodloe Jr., S.3
  • 54
    • 0027974208 scopus 로고
    • Immunohistochemical study of alpha 1-5 chains of type IV collagen in hereditary nephritis
    • Nakanishi K, Yoshikawa N, Iijima K, et al. Immunohistochemical study of alpha 1-5 chains of type IV collagen in hereditary nephritis. KidneyInt. 1994;46:1413-1421.
    • (1994) KidneyInt , vol.46 , pp. 1413-1421
    • Nakanishi, K.1    Yoshikawa, N.2    Iijima, K.3
  • 55
    • 12044253337 scopus 로고
    • 5 chain: Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody
    • 5 chain: normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am J Pathol. 1994;144:986-996.
    • (1994) Am J Pathol , vol.144 , pp. 986-996
    • Yoshioka, K.1    Hino, S.2    Takemura, T.3
  • 56
    • 0032918906 scopus 로고    scopus 로고
    • Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin
    • van der Loop FTL, Monnens LAH, Schroder CH, et al. Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. Kidney Int. 1999;55:1217-1224.
    • (1999) Kidney Int , vol.55 , pp. 1217-1224
    • van der Loop, F.T.L.1    Monnens, L.A.H.2    Schroder, C.H.3
  • 58
    • 34547737567 scopus 로고    scopus 로고
    • patients
    • patients. Kidney Int. 2007;72:512-516.
    • (2007) Kidney Int , vol.72 , pp. 512-516
  • 59
    • 0028939722 scopus 로고
    • Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution
    • Gubler MC, Knebelmann B, Beziau A, et al. Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int. 1995;47:1142-1147.
    • (1995) Kidney Int , vol.47 , pp. 1142-1147
    • Gubler, M.C.1    Knebelmann, B.2    Beziau, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.