Alport Syndrome

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Yang, C. Alport Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4694 (accessed on 22 September 2026).

Yang C. Alport Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4694. Accessed September 22, 2026.

Yang, Catherine. "Alport Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4694 (accessed September 22, 2026).

Yang, C. (2020, December 24). Alport Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4694

Yang, Catherine. "Alport Syndrome." Encyclopedia. Web. 24 December, 2020.

Alport Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/alport-syndrome

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

genetic conditions

References

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 andgenotype-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.
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: naturalhistory in 195 families and genotype- phenotype correlations in males. J Am SocNephrol. 2000 Apr;11(4):649-57.
Kashtan CE. Familial hematuria due to type IV collagen mutations: Alportsyndrome and thin basement membrane nephropathy. Curr Opin Pediatr. 2004Apr;16(2):177-81. Review.
Kashtan CE. Familial hematurias: what we know and what we don't. PediatrNephrol. 2005 Aug;20(8):1027-35.
Kruegel J, Rubel D, Gross O. Alport syndrome--insights from basic and clinicalresearch. Nat Rev Nephrol. 2013 Mar;9(3):170-8. doi: 10.1038/nrneph.2012.259.
Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. Type-IV collagen relateddiseases. J Nephrol. 2003 Mar-Apr;16(2):314-6. Review.
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 inSlovenian families with Alport syndrome and benign familial hematuria. KidneyInt. 2007 Jun;71(12):1287-95.
Thorner PS. Alport syndrome and thin basement membrane nephropathy. NephronClin Pract. 2007;106(2):c82-8.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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