Abstract
Classical Alport’s syndrome is an X-linked disease and is the most common form of Alport’s syndrome (90% of patients), with an overall incidence of Alport’s syndrome in the United States of 1 : 5000 to 1 : 10,000 (1–4). Patients show hematuria in childhood with progressive hearing loss in one third, and ocular defects and progression to renal failure in 30% to 40% by early adulthood. Anterior lenticonus is the most common eye defect.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Churg J, Sherman RL. Pathologic characteristics of hereditary nephritis. Arch Pathol 95:374, 1973.
Mazzucco G, Barsotti P, Muda AO, et al. Ultrastructural and immunohistochemical findings in Alport’s syndrome: a study of 208 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations. J Am Soc Nephrol 9:1023–1031, 1998.
Pirson Y. Making the diagnosis of Alport’s syndrome. Kidney Int 56:760–775, 1999.
Kashtan CE. Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr 16:177–181, 2004.
Hudson BG, Kalluri R, Tryggvason K. Pathology of glomerular basement membrane nephropathy. Curr Opin Nephrol Hypertens 3:334–339, 1994.
Longo I, Porcedda P, Mari F, et al. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int 61:1947–1956, 2002.
Pescucci C, Mari F, Longo I, et al. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int 65:1598–1603, 2004.
Nakanishi K, Yoshikawa N, Iijima K, et al. Immunohistochemical study of alpha 1–5 chains of type IV collagen in hereditary nephritis. Kidney Int 46:1413–1421, 1994.
Yoshioka K, Hino S, Takemura T, et al. 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.
Kashtan CE. Alport syndrome: is diagnosis only skin-deep? Kidney Int 55:1575–1576, 1999.
Kashtan CE. Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis. Pediatr Nephrol 14:502–512, 2000.
Yoshiokawa N, Matsuyama S, Iijima K, Maehara K, Okada S, Matsuo T. Benign familial hematuria. Arch Pathol Lab Med 112:794–797, 1988.
Tiebosch ATMG, Frederik PM, van Breda Vriesman PJC, et al. Thin-basement-membrane nephropathy in adults with persistent hematuria. N Engl J Med 320:14–18, 1989.
Hisano S, Kwano M, Hatae K, et al. Asymptomatic isolated microhaematuria: natural history of 136 children. Pediatr Nephrol 5:578–581, 1991.
Proesmans W, Knockaert H, Trouet D. Enalapril in paediatric patients with Alport syndrome: 2 years’ experience. Eur J Pediatr 159:430–433, 2000.
Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 11:649–657, 2000.
Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY. Thin basement membrane nephropathy. Kidney Int 64:1169–1178, 2003.
Matsumae T, Fukusaki M, Sakata N, Takebayashi S, Naito S. Thin glomerular basement membrane in diabetic patients with urinary abnormalities. Clin Nephrol 42:221–226, 1994.
Cosio FG, Falkenhain ME, Sedmak DD. Association of thin glomerular basement membrane with other glomerulopathies. Kidney Int 46:471–474, 1994.
Nogueira M, Cartwright J Jr, Horn K, et al. Thin basement membrane disease with heavy proteinuria or nephrotic syndrome at presentation. Am J Kidney Dis 35:E15, 2000.
Liapis H, Gokden N, Hmiel P, Miner JH. Histopathology, ultrastructure, and clinical phenotypes in thin glomerular basement membrane disease variants. Hum Pathol 33:836–845, 2002.
Lemmink HH, Nillesen WN, Mochizuki T, et al. Benign familial hematuria due to mutation of the type IV collagen a4 gene. J Clin Invest 98:1114–1118, 1996.
Buzza M, Wang YY, Dagher H, et al. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome. Kidney Int 60:480–483, 2001.
Nieuwhof CMG, de Heer F, de Leeuw P, van Breda Vriesman PJC. Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure. Kidney Int 51:1596–1601, 1997.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2006 Springer Science+Business Media, LLC
About this chapter
Cite this chapter
Fogo, A.B. (2006). Thin Basement Membranes and Alport’s Syndrome. In: Fogo, A.B., Cohen, A.H., Jennette, J.C., Bruijn, J.A., Colvin, R.B. (eds) Fundamentals of Renal Pathology. Springer, New York, NY. https://doi.org/10.1007/978-0-387-31127-2_7
Download citation
DOI: https://doi.org/10.1007/978-0-387-31127-2_7
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-31126-5
Online ISBN: 978-0-387-31127-2
eBook Packages: MedicineMedicine (R0)