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:

Kashtan, C. Alport syndrome and thin glomerular basement membrane disease.J Am Soc Nephrol. 1998; 9(9): 1736-1750.

OMIM: Alport syndrome. Available at http://omim.org/entry/301050?search=alport&highlight=alport

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