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)


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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