Friday, 12 November 2010

MRCP revision battle 47.5: Alport's syndrome

Alport's syndrome is an inherited kidney disease with an incidence of 1 in 5000.

It is inherited in an X-linked dominant fashion 85% of the time; 15% are autosomal recessive.

Alport's is an abnormality in the gene that codes for type IV collagen.

It is associated with:
  • abnormal GBM - 'basket weave' --> chronic renal failure, 30% nephrotic
  • sensorineural deafness
  • occular defects in 40%
    • lenticonus = bulging lens capsule on slit lamp exam
    • retinitis pigmentosa

Treatment is treating symptoms.