Alport Syndrome With Kidney Cysts Is Still Alport Syndrome

Abstract

Alport syndrome is characterized by hematuria, progressive kidney failure, hearing loss, and ocular abnormalities.1 X-linked inheritance caused by pathogenic COL4A5 variants is much more common than recessive disease with 2 pathogenic variants in COL4A3 or COL4A4. Individuals with a heterozygous pathogenic COL4A3 or COL4A4 variant (sometimes called “autosomal dominant Alport syndrome” or “thin basement membrane nephropathy”) have hematuria but rarely develop kidney failure, hearing loss, or the ocular features.

Topics & Concepts