Alport’s syndrome encompasses a group of inherited, heterogeneous disorders involving the basement membranes of the kidney and frequently effecting the cochlea and eye as well.
The various form of the disease include the following:
- Autosomal recessive Alport syndrome (ARAS)
- X-linked Alport syndrome(X-LAS)
- Autosomal dominant Alport syndrome (ADAS)
PRESENTATION:
Males present much more seriously than females and often die before 30 years.
Renal manifestations
- Haematuria
- Proteinuria
- Hypertension: detectable by second decade of life. Oedema and nephrotic syndrome(30-40%)
Hearing impairment:
Sensory Neural Hearing Loss: In approximately 50% patients, a high frequency SNHL begins around the age of 10 years 90% are deaf by the age of 40 years.
Ocular manifestations:
- Anterior lenticonus
- Dot and fleck retinopathy
- Posterior polymorphous corneal dystrophy
- Temporal macular thinning
Leiomymatosis of esophagus and tracheobronchial tree has been reported in some families with Alport’s Syndrome.
In Autosomal Dominant form: renal and Hearing Loss manifestation rare.
