Alport syndrome

Question 1

what is it?

Answer 1

rare inherited condition

Question 2

cause

Answer 2

mutation in genes coding for alpha 3,4 or 5 chains of type 4 collagen

Question 3

inheritance

Answer 3

most commonly x-linked
autosomal dominant
autosomal recessive

Question 4

autosomal dominant

Answer 4

milder phenotype

Question 5

autosomal recessive

Answer 5

associated with parent consanguinity

Question 6

females

Answer 6

tend to not be affected if they are only carriers

Question 7

female carriers

Answer 7

increased risk of hypertension
renal impairment
some cases = sensorineural hearing loss

Question 8

what is affected?

Answer 8

basement membrane of kidneys, eyes and ears

Question 9

clinical features

Answer 9

often asymptomatic 
microscopic haematuria
progressive renal impairment 
hypertension 
proteinuria
sensorineural hearing loss 
anterior lenticonus
recurrent corneal erosions 
retinal granulations
leiomyomas 
arterial aneurysms

Question 10

microscopic haematuria

Answer 10

starts in childhood and rarely detected

Question 11

progressive renal impairment

Answer 11

SOB
peripheral oedema
fatigue

Question 12

when does proteinuria occur?

Answer 12

as renal impairment develops

Question 13

sensorineural hearing loss

Answer 13

bilateral and affects high frequencies

Question 14

what is anterior lenticonus?

Answer 14

protrusion of lens

Question 15

what are leiomyomas?

Answer 15

fibroids

Question 16

diagnosis

Answer 16

FBC
genetic testing
biopsy of skin and kidney

Question 17

genetic testing

Answer 17

to identify mutation

Question 18

skin biopsy

Answer 18

less invasive but can only be used when the inheritance is x-linked

Question 19

kidney biopsy

Answer 19

identify glomerular basement membrane changes

Question 20

management

Answer 20

lifelong care 
referral to ENT/opthalmology 
supportive treatment 
ACE inhibitors 
regular monitoring 
surgical resection 
genetic counselling 
renal transplant

Question 21

what is referral to ENT/opthalmology for?

Answer 21

hearing loss and ocular manifestations - offer supportive treatment e.g. hearing aids

Question 22

renal transplant

Answer 22

can offer cure

alleviates need for dialysis and no chance of recurrence but increased risk of anti-glomerular basement membrane disease

Question 23

what are ACE inhibitors for?

Answer 23

hypertension and proteinuria

Question 24

what is regular monitoring for?

Answer 24

proteinuria
renal function
BP

Question 25

what is surgical resection for?

Answer 25

leiomyomas