New Study Provides Insight for Variability in the Severity of Alport Syndrome

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 […]

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, […]