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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

Learn about the pathophysiology of Alport syndrome

Highlight What May Be Hiding In Plain Sight

The signs of Alport syndrome can vary from patient to patient.7 Accurately diagnose Alport syndrome by highlighting the following signs:

  • Hematuria
  • Inflammation
  • GFR decline
  • History of Family CKD
CKD=chronic kidney disease.

Hematuria

  • Hematuria is not just a late-stage sign of the condition7
  • At-risk males and females who present later in life with hematuria, but without other characteristics, may be misdiagnosed8
  • Persistent hematuria is the cardinal feature of Alport syndrome9
Find out how you can confirm diagnosis

Inflammation

  • Inflammation is a central element of chronic kidney disease progression5
  • Alport syndrome progresses due to ongoing damage from chronic inflammation in the kidneys1,3,5,6
  • Inflammation is a common mechanism underlying progression to end-stage kidney disease5
Learn more about Chronic Inflammation

GFR decline

  • All forms of chronic kidney disease are characterized by progressive loss in glomerular filtration rate (GFR); Alport syndrome is no exception10
  • Consider Alport syndrome when you detect GFR decline, particularly when accompanied by a family history of AS or CKD, to help manage progression sooner11
  • GFR decline is a clear marker of progression10
See how severe Alport Syndrome can be

Family History of CKD

  • Alport syndrome is an inherited chronic kidney disease (CKD) that can affect multiple members of a family7
  • If you suspect Alport syndrome in a family, earlier diagnosis can be achieved through genetic testing12
  • Alport syndrome can filter through a family7
Learn more about genetic testing for families
See how the signs of Alport syndrome affect different people.
Explore Patient Profiles

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.

Test your knowledge on
Alport syndrome

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Ongoing research continues to reveal previously unknown information about Alport syndrome. Join our mailing list for periodic updates about the condition.

Genetic testing for Alport syndrome and several other rare forms of chronic kidney disease is more accessible than ever before. Find out the eligibility requirements for no-charge genetic testing through KIDNEYCODE.

Learn more

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.
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