Pathology - Alport Syndrome

Pathology - Alport Syndrome 
X-linked dominant genetic condition characterized by a mutation in the alpha 5-chain of type IV collagen.

Pathology 
Electron microscopy shows irregular areas of thickening or thinning in the glomerular basement membrane with longitudinal breaking of the lamina densa.

Clinical Symptoms and Signs 
The combination of nephritis, nerve deafness, and eye problems such as cataracts, lens displacement, and corneal dystrophy may present initially with hematuria and erythrocyte casts.

Treatment: ACE inhibitors; kidney transplant may be considered for severe instances.