Alport syndrome Flashcards
what is it?
rare inherited condition
cause
mutation in genes coding for alpha 3,4 or 5 chains of type 4 collagen
inheritance
most commonly x-linked
autosomal dominant
autosomal recessive
autosomal dominant
milder phenotype
autosomal recessive
associated with parent consanguinity
females
tend to not be affected if they are only carriers
female carriers
increased risk of hypertension
renal impairment
some cases = sensorineural hearing loss
what is affected?
basement membrane of kidneys, eyes and ears
clinical features
often asymptomatic microscopic haematuria progressive renal impairment hypertension proteinuria sensorineural hearing loss anterior lenticonus recurrent corneal erosions retinal granulations leiomyomas arterial aneurysms
microscopic haematuria
starts in childhood and rarely detected
progressive renal impairment
SOB
peripheral oedema
fatigue
when does proteinuria occur?
as renal impairment develops
sensorineural hearing loss
bilateral and affects high frequencies
what is anterior lenticonus?
protrusion of lens
what are leiomyomas?
fibroids
diagnosis
FBC
genetic testing
biopsy of skin and kidney
genetic testing
to identify mutation
skin biopsy
less invasive but can only be used when the inheritance is x-linked
kidney biopsy
identify glomerular basement membrane changes
management
lifelong care referral to ENT/opthalmology supportive treatment ACE inhibitors regular monitoring surgical resection genetic counselling renal transplant
what is referral to ENT/opthalmology for?
hearing loss and ocular manifestations - offer supportive treatment e.g. hearing aids
renal transplant
can offer cure
alleviates need for dialysis and no chance of recurrence but increased risk of anti-glomerular basement membrane disease
what are ACE inhibitors for?
hypertension and proteinuria
what is regular monitoring for?
proteinuria
renal function
BP
what is surgical resection for?
leiomyomas
