Alport Syndrome

Overview
  • Alport Syndrome is a hereditary disease with a constellation of symptoms that include nephritic syndrome as well as deafness and ocular problems. Although hereditary, alport syndrome generally presents in adult life.
Etiology
  • Alport syndrome appears to be due to a mutation in one of the subtypes of genes coding for collagen. This subtype of collagen is critical for the functioning of a variety of tissues explaining the diverse set of symptoms observed.
Morphology
  • Early on, the glomerular basement membrane of Alport's patients appears thin; however, over time it gains extra layers of variable density, thus appearing to be "split". Eventually glomeruli scar and their corresponding tubules atrophy.
Clinical Consequences
  • Kidney: Alport Syndrome can present with nephritic syndrome (i.e. hematuria, secondary hypertension, oliguria, and azotemia) but generally some mild proteinuria is also present
  • Ear: Deafness which is neural in origin
  • Eye: Can result in a variety of ocular defects that mostly involve the lens