Alport syndrome and thin basement membrane disease

Current Diagnostic Pathology

Volumn 8, Issue 5, 2002, Pages 349-360

  Kashtan, Clifford E ^a  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

Alport syndrome; Haematuria; Thin basement membrane disease; Type IV collagen

Indexed keywords

COLLAGEN TYPE 4;

ALPORT SYNDROME; BASEMENT MEMBRANE; CLINICAL FEATURE; COLLAGEN SYNTHESIS; GENE LOCUS; GENE MUTATION; HEARING IMPAIRMENT; HEMATURIA; HYPERTENSION; KIDNEY DISEASE; MOLECULAR BIOLOGY; PERCEPTION DEAFNESS; PROTEINURIA; RETINA MACULOPATHY; REVIEW;

EID: 0036773617     PISSN: 09686053     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0968-6053(02)90136-5     Document Type: Review

References (59)

1. Boutaud A, Borza D B, Bondar O, Gunwar S, Netzer K O, Singh N, Ninomiya Y, Sado Y, Noelken M E, Hudson B G. Type IV collagen of the glomerular basement membrane: Evidence that the chain specificity of network assembly is encoded by the noncollagenous NCI domains. J Biol Chem 2000; 275: 30716-30724.
2. Jais J P, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer K-O, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz J M, Schroder C, Sanak M, Krejcova S, Carvalho M F, Saus J, Antignac C, Smeets H, Gubler M C. X-linked Alport syndrome: Natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 2000; 11: 649-657.
3. Lemmink H H, Schröder C H, Monnens L A H, Smeets H J M. The clinical spectrum of type IV collagen mutations. Hum Mutat 1997; 9: 477-499.
4. Antignac C, Heidet L. Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis. Contrib Nephrol 1996; 117: 172-182.
5. Antignac C, Zhou J, Sanak M, Cochat P, Roussel B, Deschenes G, Gros F, Knebelmann B, Hors-Cayla M-C, Tryggvason K, Gubler M-C. Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 gene. Kidney Int 1992; 42: 1178-1183.
6. Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, de Paepe A, Tryggvason K, Reeders S T. Deletion of the paired α5(IV) and α6(IV) collagen genes in inherited smooth muscle tumors. Science 1993; 261: 1167-1169.
7. Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould J D M, Leppig K A, Proesmans W, Guyot C, Guillot M, Roussel B, Tryggvason K, Grunfeld J P, Gubler M C, Antignac C. Deletions of both α5(IV) and a6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumors. Hum Mol Genet 1995; 4: 99-108.
8. Heidet L, Cohen-Solal L, Boye E, Thorner P, Kemper M J, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler M C, Antignac C. Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region. Cytogenet Cell Genet 1997; 78: 240-246.
9. 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.
10. Heiskari N, Zhang X, Zhou J, Leinonen A, Barker D, Gregory M, Atkin C L, Netzer K O, Weber M, Reeders S, Grohagenriska C, Neumann H P H, Trembath R, Tryggvason K. Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: A study of 250 patients with haematuria and suspected of having Alport syndrome. J Am Soc Nephrol 1996; 7: 702-709.
11. Kuvaniemi H, Tromp G, Prockop D J. 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.
12. Prockop D J. Mutations in collagen genes as a cause of connective-tissue diseases. N Engl J Med 1992; 326: 540-546.
13. Lemmink H H, Mochizuki T, van den Heuvel L P W J, Schroder C H, Barrientos A, Monnens L A H, van Oost B A, Brunner H G, Reeders S T, Smeets H J M. Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 1994; 3: 1269-1273.
14. Mochizuki T, Lemmink H H, Mariyama M, Antignac C, Gubler M C, Pirson Y, Verellen-Dumoulin C, Chan B, Schroeder C H, Smeets H J M, Reeders S T. Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome. Nature Genet 1994; 8: 77-82.
15. Knebelmann B, Forestier L, Drouot L, Quinones S, Chuet C, Benessy F, Saus J, Antignac C. Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. Hum Mol Genet 1995; 4: 675-679.
16. 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.
17. Heidet L, Arrondel C, Forestier L, Cohen-Salal L, Mollet G, Gutierrez B, Stavrou C, Gubler MC, Antignac C. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J Am Soc Nephrol 2001; 12: 97-106.
18. Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grunfeld J-P, Palcoux J-B, Gubler M-C, Antignac C. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Am J Hum Genet 1998; 63: 1329-1340.
19. van der Loop F T L, Heidet L, Timmer E D J, van den Bosch B J C, Leinonen A, Antiganc C, Jefferson J A, Maxwell A P, Monnens L A H, Schroder C H, Smeets H J M. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int 2000; 58: 1870-1875.
20. Ciccarese M, Casu D, Wong F K, Faedda R, Arvidsson S, Tonolo G, Luthman H, Satta A. Identification of a new mutation in the α4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. Nephrol Dial Transpl 2001; 16: 2008-2012.
21. Badenas C, Praga M, Tazon B, Heidet L, Arrondel C, Armengol A, Andres A, Morales E, Camacho J A, Lens X, Davila S, Mila M, Antignac C, Darnell A, Torra R. Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria. J Am Soc Nephrol 2002; 13: 1248-1254.
22. Buzza M, Wilson D, Savige J. Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Kidney Int 2001; 59: 1670-1676.
23. Lemmink H H, Nillesen W N, Mochizuki T, Schröder C H, Brunner H G, van Oost B A, Monnens L A H, Smeets H J M. Benign familial hematuria due to mutation of the type IV collagen a4 gene. J Clin Invest 1996; 98: 1114-1118.
24. Collar J E, Ladva S, Cairns T D, Cattell V. Red cell traverse through thin glomerular basement membranes. Kidney Int 2002; 59: 2069-2072.
25. Piccini M, Casari G, Zhou J, Bruttini M, Volti S L, Ballabio A, Renieri A. Evidence for genetic heterogeneity in benign familial hematuria. Am J Nephrol 1999; 19: 464-467.
26. Rumpelt H-J. Hereditary nephropathy (Alport syndrome): Correlation of clinical data with glomerular basement membrane alterations. Clin Nephrol 1980; 13: 203-207.
27. Beathard G A, Granholm N. Development of the characteristic ultrastructural lesion of hereditary nephritis during the course of the disease. Am J Med 1977; 62: 751-756.
28. Vogler C, McAdams A J, Homan S M. Glomerular basement membrane and lamina densa in infants and children: An ultrastructural evaluation. Pediatr Pathol 1987; 7: 527-534.
29. Steffes M W, Barbosa J, Basgen J M, Sutherland D E R, Najarian J S, Mauer S M. Quantitative glomerular morphology of the normal human kidney. Kidney Int 1983; 49: 82-86.
30. Tiebosch A T M G, Frederik P M, van Breda Vriesman P J C, Mooy J M V, van Rie H, van de Wiel T W M, Wolters J, Zeppenfeldt E. Thin-basement-membrane nephropathy in adults with persistent hematuria. N Engl J Med 1989; 320: 14-18.
31. Dische F E. Measurement of glomerular basement membrane thickness and its application to the diagnosis of thin-membrane nephropathy. Arch Pathol Lab Med 1992; 116: 43-49.
32. Schroder C H, Bontemps C M, Assmann K J M, Schuurmans-Stekhoven J H, Foidart J M, Monnens L A H, Veerkamp J H. Renal biopsy and family studies in 65 children with isolated hematuria. Acta Paediatr Scand 1990; 79: 630-636.
33. Lang S, Stevenson B, Risdon R A. Thin basement membrane nephropathy as a cause of recurrent haematuria in childhood. Histopathology 1990; 16: 331-337.
34. 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.
35. Meroni M, Sessa A, Battini G, Tarelli L, Bertani T, Renieri A, Seri M, De Marchi M. Alport syndrome with type 1 membranoproliferative glomerulonephritis. Nephron 1993; 65: 479-480.
36. Cosio F G, Falkenhain M E, Sedmak D D. Association of thin glomerular basement membrane with other glomerulopathies. Kidney Int 1994; 46: 471-474.
37. Nieuwhof C M, de Heer F, de Leeuw P, van Breda Vriesman P J. Thin GBM nephropathy: Premature glomerular obsolescence is associated with hypertension and late onset renal failure. Kidney Int 1997; 51: 1596-1601.
38. Nakanishi K, Yoshikawa N, Iijima K, Kitagawa K, Nakamura H, Ito H, Yoshioka K, Kagawa M, Sado Y. Immunohistochemical study of al-5 chains of type IV collagen in hereditary nephritis. Kidney Int 1994; 46: 1413-1421.
39. Kashtan C E, Kleppel M M, Gubler M C. Immunohistologic findings in Alport syndrome. Contrib Nephrol 1996; 117: 142-153.
40. Kagawa M, Kishiro Y, Naito I, Nemoto T, Nakanishi H, Ninomiya Y, Sado Y. Epitope-defined monoclonal antibodies against type-IV collagen for diagnosis of Alport's syndrome. Nephrol Dial Transpl 1997; 12: 1238-1241.
41. Meleg-Smith S, Magliato S, Cheles M, Garola R E, Kashtan C E. X-linked Alport syndrome in females. Hum Pathol 1998; 29: 404-408.
42. Gubler M C, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel M M, Antignac C. Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution. Kidney Int 1995; 47: 1142-1147.
43. Pettersson E, Tornroth T, Wieslander J. Abnormally thin glomerular basement membrane and the Goodpasture epitope. Clin Nephrol 1990; 33: 105-109.
44. 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.
45. Colville D J, Savige J. Alport syndrome: A review of the ocular manifestations. Ophthal Genet 1997; 18: 161-173.
46. Colville D, Savige J, Morfis M, Ellis J, Kerr P, Agar J, Fasset R. Ocular manifestations of autosomal recessive Alport syndrome. Ophthal Genet 1997; 18: 119-128.
47. Nielsen C E. Lenticonus anterior and Alport's syndrome. Arch Ophthalmol 1978; 56: 518-530.
48. Brownell R D, Wolter J R. Anterior lenticonus in familial hemorrhagic nephritis: Demonstration of lens pathology. Arch Ophthalmol 1964; 71: 481-483.
49. Streeten B W, Robinson M R, Wallace R, Jones D B. Lens capsule abnormalities in Alport's syndrome. Arch Ophthalmol 1987; 105: 1693-1697.
50. Kato T, Watanabe Y, Nakayasu K, Kanai A, Yajima Y. The ultrastructure of the lens capsule abnormalities in Alport's syndrome. Jpn J Ophthalmol 1998; 42: 401-405.
51. Perrin D, Jungers P, Grunfeld J P, Delons S, Noel L H, Zenatti C. Perimacular changes in Alport's syndrome. Clin Nephrol 1980; 13: 163-167.
52. Sabates R, Krachmer J H, Weingeist T A. Ocular findings in Alport's syndrome. Ophthalmologica 1983; 186: 204-210.
53. Thompson S M, Deady J P, Willshaw H E, White R H R. Ocular signs in Alport's syndrome. Eye 1987; 1: 146-153.
54. Teekhasaenee C, Nimmanit S, Wutthiphan S, Vareesangthip K, Laohapand T, Malasitr P, Ritch R. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology 1991; 98: 1207-1215.
55. Burke J P, Clearkin L G, Talbot J F. Recurrent corneal epithelial erosions in Alport's syndrome. Acta Ophthalmol 1991; 69: 555-557.
56. Rhys C, Snyers B, Pirson Y. Recurrent corneal erosion associated with Alport's syndrome. Kidney Int 1997; 52: 208-211.
57. Mazzucco G, Barsotti P, Muda A O, 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 1998; 9: 1023-1031.
58. Pajari H, Koskimies O, Muhonen T, Kaarianen H. The burden of genetic disease and attitudes towards gene testing in Alport syndrome. Pediatr Nephrol 1999; 13: 471-476.
59. van der Loop F T L, Monnens L A H, Schroder C H, Lemmink H H, Breuning M H, Timmer E D J, Smeets H J M. Identification of COL4A5 defects in Alport syndrome by immunochemistry of skin. Kidney Int 1999; 55: 1217-1224.