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Alport syndrome
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References
These sources were used to develop the Genetics Home Reference
condition summary
on Alport syndrome.
Ierino FL, Kanellis J. Thin basement membrane nephropathy and renal transplantation. Semin Nephrol. 2005 May;25(3):184-7. Review.
PubMed citation
Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. 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 Oct;14(10):2603-10.
PubMed citation
Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000 Apr;11(4):649-57.
PubMed citation
Kashtan CE. Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr. 2004 Apr;16(2):177-81. Review.
PubMed citation
Kashtan CE. Familial hematurias: what we know and what we don't. Pediatr Nephrol. 2005 Aug;20(8):1027-35. Epub 2005 Apr 27. Review.
PubMed citation
Kashtan CE. The nongenetic diagnosis of thin basement membrane nephropathy. Semin Nephrol. 2005 May;25(3):159-62. Review.
PubMed citation
Merchant SN, Burgess BJ, Adams JC, Kashtan CE, Gregory MC, Santi PA, Colvin R, Collins B, Nadol JB Jr. Temporal bone histopathology in alport syndrome. Laryngoscope. 2004 Sep;114(9):1609-18.
PubMed citation
Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. Type-IV collagen related diseases. J Nephrol. 2003 Mar-Apr;16(2):314-6. Review.
PubMed citation
Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int. 2007 Jun;71(12):1287-95. Epub 2007 Mar 28.
PubMed citation
Thorner PS. Alport syndrome and thin basement membrane nephropathy. Nephron Clin Pract. 2007;106(2):c82-8. Epub 2007 Jun 6. Review.
PubMed citation
Wang YY, Rana K, Tonna S, Lin T, Sin L, Savige J. COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). Kidney Int. 2004 Mar;65(3):786-90.
PubMed citation
Zehnder AF, Adams JC, Santi PA, Kristiansen AG, Wacharasindhu C, Mann S, Kalluri R, Gregory MC, Kashtan CE, Merchant SN. Distribution of type IV collagen in the cochlea in Alport syndrome. Arch Otolaryngol Head Neck Surg. 2005 Nov;131(11):1007-13.
PubMed citation
Reviewed: April 2009
Published: May 20, 2013
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