Alport syndrome: facts and opinions

F1000Res. 2017 Jan 17:6:50. doi: 10.12688/f1000research.9636.1. eCollection 2017.

Abstract

In this commentary, I review recent advances in Alport syndrome genetics, diagnostics, and therapeutics. I also offer some opinions regarding strategies to optimize the early identification of affected individuals to promote early therapeutic intervention.

Keywords: Alport syndrome; COL4A3; COL4A4; COL4A5; collagen IV alpha-345 network; end-stage renal disease.

Publication types

  • Review