Alport Syndrome
| Overview |
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- 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 |
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- 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 |
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- 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 |
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- 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