Alport's SYndrome

Question 1

Inheritance

Answer 1

X Linked Dominant

Question 2

The gene affected in Alports encodes for what?

Answer 2

• type IV collagen
  => abnormal glomerular-basement membrane (GBM).

Question 3

ALports is more severe in females, TRUE/FALSE?

Answer 3

FALSE
- disease is more severe in males
- females rarely develop renal failure.

Question 4

Presentation of Alports in childhood

Answer 4

• microscopic haematuria
• progressive renal failure
• bilateral sensorineural deafness
• lenticonus: protrusion of the lens surface into the anterior chamber
• retinitis pigmentosa

Question 5

Signs of Alports on renal biopsy electron microscopy

Answer 5

splitting of lamina densa of GBM
=> “basket weave” appearance