Who has Alport Syndrome?
~30,000-60,000
men and women, boys and girls are living with Alport syndrome in the United States5
All patients are at risk of progression
Anyone affected by Alport syndrome, regardless of sex-linked or non sex-linked inheritance patterns, has a genetic mutation that defines the condition. Every patient is at risk of developing severe disease.5,7,8
Learn more about the genetics of Alport syndrome
Look beyond the expected population
Common misdiagnoses for Alport syndrome include7,9,10:
Hereditary/familial nephritis
Catch-all term for inherited kidney disease
Thin basement membrane disease (TBMD)
Earlier-stage Alport syndrome patients often have thin basement membranes
Focal segmental glomerulosclerosis (FSGS)
Later stages of Alport syndrome may also have FSGS-like characteristics
Immunoglobulin A (IgA) nephropathy
IgA nephropathy can present with blood in the urine and can be misdiagnosed early on
Glomerulonephritis
Inflammation of the kidney caused by an immune respone also results in hematuria and proteinuria
10% of patients have a genetic cause of CKD11
Alport syndrome occurs when genetic variants in the COL4A3/4/5 genes are present. One exome sequencing analysis of 3315 patients reported that 10% of CKD patients had a genetic cause of disease. Of these patients, 30% had COL4A mutations.
30% of those with a genetic cause had a mutation in
COL4A3/4/5 gene
Of those patients with COL4A3/4/5 mutations, 62% were misdiagnosed or not diagnosed with Alport syndrome or TBMN
CKD=chronic kidney disease; COL4A=collagen type 4A; PKD=polycystic kidney disease; TBMN=thin basement membrane nephropathy; HTN=hypertensive nephropathy; GN=glomerulosclerosis; NOS=not otherwise specified; FSGS=focal segmental glomerulosclerosis.
Look beneath the surface:
Prevalence
Watch this video to find out about the spectrum of people who are affected by Alport syndrome.
Highlight Alport syndrome by recognizing the following signs:
- Persistent Hematuria
- Underlying Inflammation
- Reduced GFR
- Family History of CKD or Alport Syndrome
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.
1. Alport syndrome diagnosis. Alport Syndrome Foundation. Accessed September 29, 2019. https://www.alportsyndrome.org/what-is-alport-syndrome. 2. Liapis H, Jain S. The interface of genetics with pathology in Alport nephritis. J Am Soc Nephrol. 2013;24(12):1925-1927. 3. Savige J, Colville D, Rheault M, et al. Alport syndrome in women and girls. Clin J Am Soc Nephrol. 2016;11(9):1713-1720. 4. 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. 5. Alport syndrome. National Organization for Rare Disorders. Accessed September 13, 2019. https://rarediseases.org/rare-diseases/alport-syndrome. 6. Savige J. Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment. J Physiol. 2014;592(18):4013-4023. 7. 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. 8. 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. 9. Malone A, Phelan P, Hall G, et al. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. Kidney Int. 2014;86(6):1253-1259. 10. Li Y, Groopman E, D’Agati V, et al. Type IV collagen mutations in familial IgA nephropathy. Kidney Int Rep. 2020;5(7):1075-1078. 11. Warady B, Rajiv A, Bangalore S, et al. Alport syndrome classification and management. Kidney Med. 2020. doi:10.1016/j.xkme.2020.05.014.
