Who has Alport Syndrome?

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
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:

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

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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.