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:
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
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.
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