Alport's Syndrome

Question 1

What type of inheritance does Alport’s syndrome have?

Answer 1

X-linked dominant pattern

Question 2

What does Alport’s syndrome cause?

Answer 2

A defect in the gene which codes for type IV collagen

Question 3

What does a defect in the gene which codes for type IV collagen result in?

Answer 3

An abnormal glomerular-basement membrane (GBM)

Question 4

What are the main features of Alport’s syndrome?

Answer 4

microscopic haematuria
progressive renal failure
bilateral sensorineural deafness
lenticonus
retinitis pigmentosa

Question 5

What are the eye conditions associated with Alport’s syndrome?

Answer 5

lenticonus: protrusion of the lens surface into the anterior chamber
retinitis pigmentosa

Question 6

What might you see on a renal biopsy of someone with Alport’s syndrome?

Answer 6

Splitting of lamina densa of the glomerular basement membrane, resulting in a ‘basket-weave’ appearance

Question 7

What is the main investigation for someone with possible Alport’s syndrome?

Answer 7

Molecular genetic testing

Question 8

What is the other investigation that can be done for someone presenting with Alport’s syndrome?

Answer 8

Renal biopsy