Heterozygous Pathogenic COL4A3 and COL4A4 Variants (Autosomal Dominant Alport Syndrome) Are Common, and Not Typically Associated With End-Stage Kidney Failure, Hearing Loss, or Ocular Abnormalities

Abstract excerpt

The term "autosomal dominant (AD) Alport syndrome" is often used to describe the condition associated with heterozygous pathogenic COL4A3 or COL4A4 variants and has largely replaced "thin basement membrane nephropathy (TBMN)." AD Alport syndrome implies that affected individuals develop end-stage kidney failure (ESKF) as well as the typical Alport hearing loss and ocular abnormalities, but these features have...

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