Alport Syndrome: Achieving Early Diagnosis and Treatment

Abstract

Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. Alport syndrome can be transmitted as an X-linked, autosomal recessive, or autosomal dominant disorder. Individuals with Alport syndrome have a significant lifetime risk for kidney failure, as well as sensorineural deafness and ocular abnormalities. The availability of effective intervention for Alport syndrome-related kidney disease makes early diagnosis crucial, but this can be impeded by the genotypic and phenotypic complexity of the disorder. This review presents an approach to enhancing early diagnosis and achieving optimal outcomes.

Keywords: Alport syndrome; COL4A3; COL4A4; COL4A5; basement membranes; collagen IV alpha chain; diagnosis; disease classification; genetic disease; hematuria; kidney failure; proteinuria; review; sensorineural hearing loss; thin basement membrane nephropathy; treatment; type IV collagen.