Internal Medicine
- X-linked disease: Mutation in type 4 collagen leads to an abnormal basement membrane of the kidney, sensorineural hearing loss, and lens abnormalities (lenticonus, corneal dystrophy, macular thinning).
- Diagnosis: Family history, genetic testing, kidney biopsy showing lamellation of the basement membrane.
- Management: Supportive only. (Avoid renal transplantation?)
- Contraindicated: Renal transplantation - resulting Rapid Progressive GN from transplantation
Pediatrics
A group of inherited, heterogeneous disorders involving the basement membranes of the kidney (Type IV collagen).
Clinical Manifestations
Hematuria
- Most common and earliest manifestation of Alport syndrome
Proteinuria
- Develops in males with XLAS and in males and females with ARAS and ADAS
Hypertension
- Usually present in males with XLAS and in males and females with ARAS and ADAS
Sensorineural Deafness
- Affects 50-90% of individuals
Ocular Manifestations
- Anterior lenticonus
- Retinopathy
