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Alport’s syndrome

Alport’s syndrome is an inherited disorder of type IV collagen, predominantly affecting the kidneys.

Features of Alport's syndrome are: 
  • Abnormal basement membrane“basket-weave” pattern 
    • Haematuria – microscopic with occasional macroscopic 
    • Proteinuria 
    • Nephritis 
    • Renal failure – mainly in males 
    • Hypertension 
  • Sensorineural deafness – 55% 
  • Ocular abnormalities 
    • Anterior lenticonus – pathogomonic 
    • Retinal flecks

85% of cases are x-linked and 15% are autosomal recessive 

Males with Alport’s syndrome are more severely affected than females. 

Treatment is symptomatic and ?renal transplant.


References:

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Abdelghafour

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Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)