References
- Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. X-linked Alport Syndrome: Natural History in 195 Families and Genotype-Phenotype Correlations in Males. J Am Soc Nephrol 2000; 11((4))649–57
- Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. X-linked Alport syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A “European Community Alport Syndrome Concerted Action” Study. J Am Soc Nephrol 2003; 14((10))2603–10
- Kashtan CE. Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis. Pediatr Nephrol 2000; 14: 502–12
- Kleppel MM, Michael AF. Expression of novel basement membrane components in the developing human kidney and eye. Am J Anat 1990; 187: 165–74
- Peissel B, Geng L, Kalluri R, Kashtan C, Rennke HG, Gallo GR, et al. Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients. J Clin Invest 1995; 96: 1948–57
- Kalluri R, Gattone VH, 2nd, Hudson BG. Identification and localization of type IV collagen chains in the inner ear cochlea. Connect Tissue Res 1998; 37: 143–50
- Lemmink HH, Schroder CH, Monnens LA, Smeets HJ. The clinical spectrum of type IV collagen mutations. Hum Mutat 1997; 9: 477–99
- Nagel M, Nagorka S, Gross O. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. Hum Mutat 2005; 26: 60
- Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant 2002; 17: 1218–27
- Chen N, Pan X, Ren H, Dong D. A clinicopathological study of Alport syndrome and detection of type IV collagen chains in Alport patients. Chin Med J (Engl) 1998; 111: 797–802
- Flinter F. Alport's syndrome. J Med Genet 1997; 34: 326–30
- Olafsson I, Hjaltadottir G, Cook E, Thorisson H, Eiriksdottir G, Petersen H. Hereditary hearing impairment. Mutation analysis of connexin 26 and POU3F4 genes in Icelanders with nonsyndromic hearing impairment. Icelandic Med J 2000; 86: 833–9
- Praga M. Therapeutic measures in proteinuric nephropathy. Kidney Int Suppl 2005; 99: S137–41
- Gross O, Beirowski B, Koepke ML, Kuck J, Reiner M, Addicks K, et al. Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome. Kidney Int 2003; 63: 438–46
- Proesmans W, Van Dyck M. Enalapril in children with Alport syndrome. Pediatr Nephrol 2004; 19: 271–5
- Callis L, Vila A, Carrera M, Nieto J. Long-term effects of cyclosporine A in Alport's syndrome. Kidney Int 1999; 55: 1051–6
- Callis L, Vila A, Nieto J, Fortuny G. Effect of cyclosporine A on proteinuria in patients with Alport's syndrome. Pediatr Nephrol 1992; 6: 140–4
- Massella L, Rizzoni G. Cyclosporine (CsA) treatment of young patients with Alport syndrome (AS) and proteinuria. J Am Soc Nephrol 2001; 12: 116A
- Charbit M, Deschaux M, Gagnadoux M, Grunfeld J, Niaudet P. Cyclosporine A therapy in Alport syndrome. J Am Soc Nephrol 2003; 14: 111A
- Chen D, Jefferson B, Harvey SJ, Zheng K, Gartley CJ, Jacobs RM, et al. Cyclosporine A Slows the Progressive Renal Disease of Alport Syndrome (X-linked hereditary nephritis): Results from a Canine Model. J Am Soc Nephrol 2003; 14((3))690–8
- Barros EJ, Boim MA, Ajzen H, Ramos OL, Schor N. Glomerular hemodynamics and hormonal participation on cyclosporine nephrotoxicity. Kidney Int 1987; 32: 19–25
- Murray BM, Paller MS, Ferris TF. Effect of cyclosporine administration on renal hemodynamics in conscious rats. Kidney Int 1985; 28: 767–74
- Birmele B, De Agostini A, Girardin EP. Increased Glomerular Cell Heparan Sulfates in vitro by Ciclosporin A: A Possible Explanation of Its Beneficial Effect in Idiopathic Nephrotic Syndrome. Nephron 2001; 88((2))156–62
- Zietse R, Wenting GJ, Kramer P, Schalekamp MA, Weimar W. Effects of cyclosporine A on glomerular barrier function in the nephrotic syndrome. Clin Sci (Lond) 1992; 82: 641–50
- Williams JD, Coles GA. Proteinuria—a direct cause of renal morbidity?. Kidney Int 1994; 45: 443–50
- Boutaud A, Borza DB, Bondar O, Gunwar S, Netzer KO, Singh N, et al. Type IV Collagen of the Glomerular Basement Membrane. Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains. J Biol Chem 2000; 275((39))30716–24