Alport Syndrome is an autoimmune disorder affecting Type 4 Collagen that includes kidney disease, hearing loss, and eye abnormalities. The genetic disease classically also manifests with hematuria and proteinuria as the disease progresses to ESRD. The issues are related to a mutation in the COL4A5 (collagen) gene and are inherited in an X-linked pattern.
The degree of clinical features are related to the severity of the organ systems involved. Most common patient will have:
- Urologic (lower tract)
- Any location
- Dilatation of stricture
- Transitional cell carcinoma
- Vascular lesions or malformations
- Chemical or radiation cystitis
- Benign prostatic hypertrophy
- Renal (upper tract)
- Myoglobinuria - positive blood, no RBCs: rhabdomyolysis
- Hemoglobinuria - positive blood, no RBCs
- Kashtan CE. Familial hematurias: what we know and what we don't. Pediatr Nephrol. 2005 Aug;20(8):1027-35.