Collagen type IV nephropathy: From thin basement membrane nephropathy to Alport syndrome;IV-es típusú kollagén nephropathiák: A vékony bazális membrán nephropathiától az Alport-szindrómáig

Orvosi Hetilap

Volumn 146, Issue 52, 2005, Pages 2647-2653

  Endreffy, Emoke ^a,d   Ondrik, Zoltán ^b   Kemény, Éva ^d   Vas, Zoltán ^c   Maróti, Zoltán ^a   Lencse, Gerda ^b   Bereczki, Csaba ^a   Haszon, Ibolya ^a   Túri, Sándor ^a   Iványi, Béla ^d  

^a UNIVERSITY OF SZEGED   (Hungary)

^b I Belgyogyaszati Klinika   (Hungary)

^c Fül Orr Gégészeti és Fej Nyaksebészeti Klinika   (Hungary)

^d Patológiai Intézet ^*  (Hungary)

Author keywords

Collagen type IV nephropathy; Linkage to Col(IV)A3 A4 A5 loci

Indexed keywords

COLLAGEN TYPE 4;

ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CONTROLLED STUDY; GENE LOCUS; GENETIC LINKAGE; GLOMERULUS BASEMENT MEMBRANE; HEMATURIA; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY DISEASE; SHORT TANDEM REPEAT; ADOLESCENT; ADULT; FEMALE; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; GLOMERULONEPHRITIS; HEARING LOSS; HETEROZYGOTE; KIDNEY; MALE; NEPHRITIS; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADULT; ANTI-GLOMERULAR BASEMENT MEMBRANE DISEASE; COLLAGEN TYPE IV; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GLOMERULAR BASEMENT MEMBRANE; HEARING LOSS; HEMATURIA; HETEROZYGOTE; HUMANS; KIDNEY; MALE; NEPHRITIS, HEREDITARY; PEDIGREE;

EID: 33644852055     PISSN: 00306002     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Boutaud, A., Borza, D. B., Bondar, O. és mtsai.: Type IV collagen of the glomerular basement membrane. Evidence that the chain specificity of network assembly is encoded by the non-collagenous NCl domains. J. Biol. Chem., 2000, 275, 30716-30724.
2. Boye, E., Mollet, G., Forestier, L. és mtsai: Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Am. J. Hum. Genet., 1998, 6, 1329-1340.
3. 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.
4. Frasca, G. M., Onetti-Muda, A., Renieri, A.: Thin glomerular basement membrane disease. J. Nephrol., 2000, 13, 15-19.
5. Gauthier, B., Trachtman, H., Frank, R. és mtsai: Familial thin basement membrane nephropathy in children with asymptomatic microhematuria. Nephron, 1989, 51, 502-508.
6. Gubler, M.C., Knebelmann, B., Beziau, A. és mtsai: Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int., 1995, 47, 1142-1147.
7. Heidet, L., Arrondel, C., Forestier, L. és mtsai: Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J. Am. Soc. Nephrol., 2001, 12, 97-106.
8. Hudson, B. G.: The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family. J. Am. Soc. Nephrol., 2004, 15, 2514-2527.
9. Hudson, B. G., Tryggvason, K., Sundaramoorthy, M. és mtsai: Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N. Engl. J. Med., 2003, 348, 2543-2556.
10. Jefferson, J. A., Lemmink, H. H., Hughes, A. E. és mtsai: Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). Nephrol. Dial. Transplant., 1997, 12, 1595-1599.
11. Kashtan, C. E.: Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore), 1999, 78, 338-360.
12. Kashtan, C. E.: Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr. Opin. Pediatr., 2004, 16, 177-181.
13. Lemmink, H. H., Nillesen, W. N., Mochizuki, T. és mtsai: Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. J. Clin. Invest., 1996, 98, 1114-1118.
14. Miller, S. A., Dykes, D. D., Polesky, H. F.: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 1988, 16, 1215.
15. Miner, J. H., Sanes, J. R.: Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome. J. Cell Biol., 1996, 135, 1403-1413.
16. Mochizuki, T., Lemmink, H. H., Mariyama, M. és mtsai: Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat. Genet., 1994, 8, 77-81.
17. Nagel, M., Nagorka, S., Gross, O.: Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. Hum. Mutat., 2005, 26, 60 (online).
18. Nakanishi, K., Yoshikawa, N., Iijima, K. és mtsai: Immunohistochemical study of alpha 1-5 chains of type IV collagen in hereditary nephritis. Kidney Int., 1994, 46, 1413-1421.
19. Netzer, K. O., Seibold, S., Weber, M.: Thin basement membrane - do we have a window for understanding the molecular pathogenesis? Nephrol. Dial. Transplant., 1999, 14, 1060-1061.
20. Pescucci, C., Mari, F., Longo, I. és mtsai: Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int., 2004, 65, 1598-1603.
21. Piccini, M., Casari, G., Zhou, J. és mtsai.: Evidence for genetic heterogeneity in benign familial hematuria. Am. J. Nephrol., 1999, 19, 464-467.
22. Pirson, Y.: Making the diagnosis of Alport's syndrome. Kidney Int., 1999, 56, 760-775.
23. Shaw, R.F., Kallen, R. J.: Population genetics of Alport's syndrome. Hypothesis of abnormal segregation and the necessary existence of mutation. Nephron, 1976, 16, 427-432.
24. Tazon Vega, B., Badenas, C., Ars, E. és mtsai: Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. Am. J. Kidney Dis., 2003, 42, 952-959.
25. Torra, R., Tazon-Vega, B., Ars, E. és mtsai: Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure. Nephrol. Dial. Transplant., 2004, 19, 2429-2432.
26. Torra, R., Badenas, C., Cofan, F. és mtsai: Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families. Nephrol. Dial. Transplant., 1999, 14, 627-630.
27. Turco, A. E., Bresin, E., Rossetti, S. és mtsai: Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome. Am. J Kidney Dis., 1997, 30, 174-179.
28. van der Loop, F. T., Monnens, L. A., Schroder, C. H. és mtsai: Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. Kidney Int., 1999, 55, 1217-1224.
29. Wang, Y. Y., Rana, K., Tonna, S. és mtsai: COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). Kidney Int., 2004, 65, 786-790.