Overview
Definition
Genetic disorder characterized by glomerulonephritis, end-stage kidney disease, and hearing loss.
Epidemiology
Rare, affects ~1 in 50,000 newborns. X-linked dominant.
Etiology & Risk Factors
- Mutations in COL4A3, COL4A4, or COL4A5 genes affecting Type IV collagen
Clinical Symptoms
- Hematuria
- Sensorineural hearing loss
- Anterior lenticonus (eye changes)
Clinical Approach
Diagnosis
- Genetic testing
- Skin/Kidney biopsy showing split basement membrane
Management
- ACE inhibitors to slow progression
- Hearing aids
- Kidney transplant
Complications
- Deafness
- Blindness
- End-stage renal disease