Alport syndrome is an inherited disease characterized by progressive loss of kidney function, hearing loss, and eye abnormalities. The syndrome is caused by genetic mutations that affect expression and/or function of the type IV collagen family protein isoforms COL4A3, COL4A4, and COL4A5, which help form the glomerular basement membranes. The onset, symptoms, progression, and severity […]
Tag: col4a5
Non-Invasive Screening Tool for Alport Syndrome
A novel method to diagnose X-linked Alport Syndrome has been developed and validated in a recent study by Andrew Malone, MBBCh, Steven Funk, PhD, Tarek Alhamad, MD and Jeffrey Miner, PhD, in the Division of Nephrology. Alport syndrome is an inherited disease characterized by a progressive loss of kidney function, hearing loss and eye abnormalities, […]