What is Alports syndrome? How does it present clinically?

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.

 

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