Normal distribution of collagen IV in renal basement membranes in Epstein's syndrome

Journal of Clinical Pathology

Volumn 50, Issue 11, 1997, Pages 919-922

  Naito, Ichiro ^a   Nomura, Shinsuke ^b   Inoue, Satoko ^a   Kagawa, Megumi ^a   Kawai, Shinichiro ^c   Gunshin, Yoshimi ^d   Joh, Kensuke ^e   Tsukidate, Chizuko ^f   Sado, Yoshikazu ^a   Osawa, Gengo ^b  

^a Shigei Medical Research Institute   (Japan)

^b KAWASAKI MEDICAL SCHOOL   (Japan)

^c Shigei Hospital   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

^e JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

Author keywords

Alport's syndrome; Collagen IV; Deafness; Epstein's syndrome; Macrothrombocytopenia

Indexed keywords

COLLAGEN TYPE 4; MONOCLONAL ANTIBODY;

ADOLESCENT; ALPHA CHAIN; ALPORT SYNDROME; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GLOMERULUS BASEMENT MEMBRANE; HUMAN; HUMAN TISSUE; KIDNEY TUBULE BASEMENT MEMBRANE; MALE; NEPHROTIC SYNDROME; PRIORITY JOURNAL; THROMBOCYTOPENIA; TISSUE DISTRIBUTION;

EID: 9844267961     PISSN: 00219746     EISSN: None     Source Type: Journal    
DOI: 10.1136/jcp.50.11.919     Document Type: Article

References (13)

1. Gregory MC, Terreros DA, Barker DF, Fain PN, Denison JC, Atkin CL. Alport syndrome - clinical phenotypes, incidence, and pathology. In: Tryggvason K, ed. Molecular, pathology and genetics of Alport syndrome. Contributions for nephrology, Basel: Karger, 1996;117:1-28.
2. Epstein's CJ, Sahud MA, Piel CF, Goodman JR, Bernfield MR, Kushner JH, et al. Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med 1972;52:299-310.
3. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990; 248:1224-7.
4. Kawai S, Nomura S, Harano T, Harano K, Fukushima T, Osawa G, et al. The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. Kidney Int 1996;49:814-22.
5. Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, et al. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Human Genet 1996;58:1192-204.
6. Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, et al. Identitication of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 1994;8:77-82.
7. Lemmink HH, Mochizuki T, van den Heuvel LPWJ, Schroder CH, Barrientos A, Monnes LAH, et al. Mutation in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 1994;3:1269-73.
8. Kashtan CF, Fish AF, 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;78:1035-44.
9. Nakanishi K, Yoshikawa N, Iijima K, Kitagawa K, Nakamura H, Ito H, et al. Immunohistochemical study of alpha 1 5 chains of type IV collagen in hereditary nephritis. Kidney Int 1994;46:1413-21.
10. Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, et al. Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int 1995;47:1142-7.
11. Sado Y, Kagawa M, Kishiro Y, Sugihara K, Naito I, Sever JM, et al. Establishment by rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different a chains of human type IV collagen. Histochem Cell Biol 1995;104:267-75.
12. Naito I, Kawai S, Nomura S, Sado Y, Osawa G, et al. Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X linked Alport syndrome. Kidney Int 1996;50:304-11.
13. Pihlajaniemi T. Molecular properties of the glomerular basement membrane. In: Tryggvason K, ed. Molecular, pathology and genetics of Alport syndrome. Contributions for nephrology. Basel: Karger, 1996;117:46-79.