What is Alport Syndrome?
Alport syndrome is a rare genetic condition responsible for a defective glomerular basement membrane (GBM), causing chronic inflammation, tissue fibrosis, and end-stage kidney disease.1,3-6
Highlight What May Be Hiding In Plain Sight
See how the signs of Alport syndrome affect different people.
Behind the Mystery:
Disease Definition
Watch this video for an overview of Alport syndrome and learn how you can identify patients living with the condition.
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Alport syndrome
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1. Savige J. Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment. J Physiol. 2014;592(18):4013-4023. 2. Alport syndrome diagnosis. Alport Syndrome Foundation. Accessed September 29, 2019. https://www.alportsyndrome.org/what-is-alport-syndrome. 3. Noone D, Licht C. An update on the pathomechanisms and future therapies of Alport syndrome. Pediatr Nephrol. 2013;28(7):1025-1036. 4. Watson S, Bush JS. Alport syndrome. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2019. https://www.ncbi.nlm.nih.gov/books/NBK470419. 5. Meng XM, Nikolic-Paterson DJ, Lan HY. Inflammatory processes in renal fibrosis. Nat Rev Nephrol. 2014;10(9):493-503. 6. Tecklenborg J, Clayton D, Siebert S, Coley SM. The role of the immune system in kidney disease. Clin Exp Immunol. 18;192(2):142-150. 7. Savige J, Colville D, Rheault M, et al. Alport syndrome in women and girls. Clin J Am Soc Nephrol. 2016;11(9):1713-1720. 8. Kashtan CE, Ding J, Garosi G, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV a345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018;93(5):1045-1051. 9. Jais JP, Knebelmann B, Giatras I, 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):2603-2610. 10. Arora P. Chronic kidney disease. Medscape. Updated August 9, 2019. Accessed September 16, 2020. https://emedicine.medscape.com/article/238798-overview. 11. Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24(3):364-375. 12. Groopman E, Goldstein D, Gharavi A. Diagnostic utility of exome sequencing for kidney disease. Reply. N Engl J Med. 2019;380(21):2080-2081.
