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

Journal of the American Society of Nephrology

Volumn 9, Issue 6, 1998, Pages 1023-1031

  Mazzucco, Gianna ^a,h   Barsotti, Paola ^b   Muda, Andrea Onetti ^b   Fortunato, Mirella ^a   Mihatsch, Michael ^c   Torri Tarelli, Laura ^d   Renieri, Alessandra ^e   Faraggiana, Tullio ^b   De Marchi, Mario ^f   Monga, Guido ^g  

^a Dipto Sci Biomediche ed Oncol Um   (Italy)

^b Dipto di Medicina Sperimentale   (Italy)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

^d Dipartimento di Anatomia Umana   (Italy)

^e UNIVERSITY OF SIENA   (Italy)

^f Cattedra di Medicina Interna   (Italy)

^g UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^h UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN;

ADOLESCENT; ADULT; ALPORT SYNDROME; ARTICLE; CHILD; ELECTRON MICROSCOPY; FEMALE; GENE; GENE MUTATION; GLOMERULUS BASEMENT MEMBRANE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INHERITANCE; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; ULTRASTRUCTURE;

EID: 0031747294     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (57)

1. Guthrie LG: "Idiopathic," or congenital, hereditary and familial hematuria. Lancet 1: 1243-1246, 1902
2. Hurst AF: Hereditary familial congenital haemorrhagic nephritis occurring in 16 individuals in three generations. Guy's Hosp Rec 3: 368-370, 1923
3. Alport AC: Hereditary familial congenital haemorrhagic nephritis. Br Med J 1: 504-506, 1927
4. Hinglais N, Grünfeld JP, Bois LE: Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome). Lab Invest 27: 473-487, 1972
5. Spear GS, Slusser RJ: Alport's syndrome: Emphasizing electron microscopic studies of the glomerulus. Am J Pathol 69: 213-222, 1972
6. Churg J, Sherman RL: Pathologic characteristics of hereditary nephritis. Arch Pathol 95: 374-379, 1973
7. Gaboardi F, Edefonti A, Imbasciati E, Tarantino A, Mihatsch MJ, Zollinger HU: Alport's syndrome (progressive hereditary nephritis). Clin Nephrol 2: 143-156, 1974
8. Kohaut EC, Singer DB, Nevels BK, Hill L: The specificity of split renal membranes in hereditary nephritis. Arch Pathol Lab Med 100: 475-479, 1976
9. Yoshikawa N, Cameron AH, White RHR: The glomerular basal lamina in hereditary nephritis. J Pathol 135: 199-209, 1981
10. Hill GS, Jenis EH, Goodloe SG: The nonspecificity of the ultrastructural alterations in hereditary nephritis. Lab Invest 31: 516-532, 1974
11. Farboody GH, Valenzuela R, McCormack LJ, Kallaen R, Osborne DG: Chronic hereditary nephritis: A clinicopathologic study of 23 new kindreds and review of the literature. Hum Pathol 10: 655-668, 1979
12. Mc Coy RC, Johnson HK, Stone WJ, Wilson BC: Absence of nephritogenic glomerular basement membrane antigen(s) in some patients with hereditary nephritis. Kidney Int 21: 642-652, 1982
13. Kashtan CE, 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 78: 1035-1044, 1986
14. Wieslander J, Barr JF, Butkowski R, Edwards SJ, Bygren P, Heinegard D, Hudson BG: Goodpasture antigen of the glomerular basement membrane: Localization to noncollagenous regions of type IV collagen. Proc Natl Acad Sci USA 81: 3838-3842, 1984
15. Atkin CL, Gregory MC, Border WA: Alport syndrome. In: Diseases of the Kidney, 2nd Ed., edited by Schrier RW, Gottschalk CW, Boston, Little Brown, 1988, pp 617-641
16. Spear GS: Alport's syndrome: A consideration of pathogenesis. Clin Nephrol 1: 336-337, 1973
17. 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 80: 263-266, 1987
18. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnik MH, Atkin CL: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248: 1224-1227, 1990
19. Lemmink HH, Mochizuki T, Van den Heuvel LPWJ, Schröder CH, Barrientos A, Monnens LAH, Van Oost BA, Brunner HG, Reeders ST, Smeets HJM: Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 3: 1269-1273, 1994
20. Mochizuki T, Lemmink HH, Mariyana M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schröder CH, Smeets HJM, Reeders ST: Identification of mutations in α3 (IV) and α4 (IV) collagen genes in Alport syndrome. Nat Genet 8: 77-82, 1994
21. Antignac C, Knebelmann B, Drouot L, Gros F, Dechênes G, Hors-Cayla MC, Zhou J, Tryggvason K, Grünfeld JP, Broyer M, Gubler MC: Deletions in the COL4A5 collagen gene in X-linked Alport syndrome: Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. J Clin Invest 93: 1195-1207, 1994
22. Kashtan CE, Kleppel MM, Gubler MC: Immunohistologic findings in Alport syndrome. In: Molecular Pathology and Genetics of Alport Syndrome, edited by Tryggvason K, Basel, Karger, 1996, pp 142-153
23. Nakanishi K, Yoshikawa N, Iijima K, Kitagawa K, Nakamura H, Ito H, Yoshioka K, Kagawa M, Sado Y: Immunohistochemical study of α1-5 chains of type IV collagen in hereditary nephritis. Kidney Int 46: 1413-1421, 1994
24. Antignac C: Molecular genetics of basement membranes: The paradigm of Alport syndrome. Kidney Int 47: S29-S33, 1995
25. Peissel B, Geng L, Kalluri R, Kashtan C, Rennke HG, Gallo GR, Yoshioka K, Sun MJ, Hudson BG, Neilson EG, Zhou J: Comparative distribution of the α1 (IV), α5 (IV), and α6 (IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients. J Clin Invest 96: 1948-1957, 1995
26. Naito I, Kawai S, Nomura S, Sado Y, Osawa G, and the Japanese Alport Network: Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Kidney Int 50: 304-311, 1996
27. Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschênes G, Grünfeld JP, Broyer M, Gubler MC, Antignac C: Spectrum of mutations in the COL4A5 gene in X-linked Alport syndrome. Am J Hum Genet 59: 1221-1232, 1996
28. Kalluri R, Weber M, Netzer KO, Sun MJ, Neilson EG, Hudson BG: COL4A5 gene deletion and production of post-transplant anti-α3 (IV) collagen alloantibodies in Alport syndrome. Kidney Int 45: 721-726, 1994
29. Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MH, Antignac C: Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution. Kidney Int 47: 1142-1147, 1995
30. Lemmink HH, Schröder CH, Monnens LAH, Smeets HJM: The clinical spectrum of type IV collagen mutations. Hum Mutat 9: 477-499, 1997
31. Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M: X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Hum Genet 58: 1192-1204, 1996
32. Heiskari N, Zhang X, Zhou J, Leinonen A, Barker D, Gregory M, Atkin CL, Netzer KO, Weber M, Reeders S, Gronhagen-Riska C, Neumann HP, Trembath R, Tryggvason K: Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutation found in four exons in COL4A6: A study of 250 patients with hematuria and suspected of having Alport syndrome. J Am Soc Nephrol 7: 702-709, 1996
33. Kawai S, Nomura S, Harano T, Harano K, Fukushima T, Osawa G and the Japanese Alport Network: The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons. Kidney Int 49: 814-822, 1996
34. Yoshioka K, Hino S, Takemura T, Maki S, Wieslander J, Takekoshi Y, Makino H, Kagawa M, Sado Y, Kashtan CE: Type IV collagen α5 chain: Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am J Pathol 144: 986-996, 1994
35. Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, Demarchi M: Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. Am J Med Genet 59: 380-385, 1995
36. Vogler C, McAdams AJ, Homan SM: Glomerular basement membrane and lamina densa in infants and children: An ultrastructural evaluation. Pediatr Pathol 7: 527-534, 1987
37. Kashtan CE, Michael AF: Alport syndrome. Kidney Int 50: 1445-1463, 1996
38. Johansson C, Butkowski R, Wieslander J: Characterization of monoclonal antibodies to the globular domain of collagen IV. Connect Tissue Res 3: 229-241, 1991
39. Ding J, Kashtan CE, Fan WW, Kleppel MM, Sun MJ, Kalluri R, Neilson EG, Michael AF: A monoclonal antibody marker for Alport syndrome identifies the Alport antigen as the α 5 chain of type IV collagen. Kidney Int 45: 1504-1506, 1994
40. Habib R, Gubler MC, Hinglais N, Noël LH, Droz D, Levy M, Mahieu P, Foidart JM, Perrin D, Bois E, Grünfeld JP: Alport's syndrome: Experience at Hôpital Necker. Kidney Int 21: S20-S28, 1982
41. Gubler MC, Antignac C, Deschênes G, Knebelmann B, HorsCayla MC, Grünfeld JP, Broyer M, Habib R: Hétérogénéité génétique clinique et morphologique dans le syndrome d'Alport. In: Actualités Néphrologiques de l'Hôpital Necker, edited by Funck-Brentano JL, Bach JF, Kreis H, Grünfeld JP, Paris, Médecine-Sciences Flammarion, 1992, pp 15-33
42. Rumpelt HJ: Hereditary nephropathy (Alport syndrome): Correlation of clinical data with glomerular basement membrane alterations. Clin Nephrol 13: 203-207, 1980
43. Zhou J, Hertz JM, Tryggvason K: Mutation in the α5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: Detection by denaturing gradient gel electrophoresis of a PCR product. Am J Hum Genet 50: 1291-1300, 1992
44. Zhou J, Gregory MC, Hertz JM, Barker DF, Atkin C, Spencer ES, Tryggvason K: Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome. Kidney Int 43: 722-729, 1993
45. Lemmink HH, Schröder C, Brunner HG, Nelen MR, Zhou J, Tryggvason K, Haagsma-Schouten WAG, Roodvoets AP, Rascher W, Van Oost BA, Smeets HJM: Identification of four novel mutations in COL4A5 gene of patients with Alport syndrome. Genomics 17: 485-489, 1993
46. Netzer KO, Pullig O, Frei U, Zhou J, Tryggvason K, Weber M: COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome. Kidney Int 43: 486-492, 1993
47. Nomura S, Osawa G, Sai T, Harano T, Harano K: A splicing mutation in the α5(IV) collagen gene of a family with Alport's syndrome. Kidney Int 43: 1116-1124, 1993
48. Nakazato H, Hattori S, Matsuura T, Koitabashi Y, Endo F, Matsuda I: Identification of a single base insertion in the COL4A5 gene in Alport syndrome. Kidney Int 44: 1091-1096, 1993
49. Guo C, Van Damme B, Van Damme-Lombaerts R, Van den Berghe H, Cassiman JJ, Marynen P: Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain. Kidney Int 44: 1316-1321, 1993
50. Smeets HJM, Melenhorst JJ, Lemmink HH, Schröder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansweijer MCE, Monnens LAH, Brunner HG, Van Oost BA: Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. Kidney Int 42: 83-88, 1992
51. Reeders ST: Molecular genetics of hereditary nephritis. Kidney Int 42: 783-792, 1992
52. Nakanishi K, Yoshikawa N, Yijima K, Nakamura H: Expression of type IV collagen alpha 3 and alpha 4 chain mRNA in X-linked Alport syndrome. J Am Soc Nephrol 7: 938-945, 1996
53. Cosgrove D, Meehan DT, Grunkemeyer JA, Kornak JM, Sayers R, Hunter WJ, Samuelson GC: Collagen COL4A3 knockout: A mouse model for autosomal Alport syndrome. Genes Dev 10: 2981-2992, 1996
54. Miner JH, Sanes JR: Molecular and functional defects in kidney of mice lacking collagen alpha 3(IV): Implications for Alport syndrome. J Cell Biol 135: 1403-1413, 1996
55. Thorner PS, Zheng K, Kalluri R, Jacob R, Hudson BG: Coordinate gene expression of the α3, α4, and α5 chains of collagen type IV: Evidence from a canine model of X-linked nephritis with COL4A5 gene mutation. J Biol Chem 271: 13821-13828, 1996
56. Jenis EH, Valeski JE, Calcagno PL: Variability of anti-GBM binding in hereditary nephritis. Clin Nephrol 15: 111-114, 1981
57. Grompe M: The rapid detection of unknown mutations in nucleic acid. Nat Genet 5: 111-117, 1995