Alport's syndrome

Question 1

In around 85% of cases, what is the inheritance pattern?

Answer 1

X linked dominant

Question 2

1) It’s caused by a defect to a gene that codes for what?
2) This leads to an abnormal what?

Answer 2

1) Type IV collagen
2) Glomerular basement membrane

Question 3

Name 2 ways it may present

Answer 3

• Microscopic haematuria
• Progressive renal failure
• Bilateral sensorineural deafness
• Retinitis pigmentosa
• Lenticonus: protrusion of the lens surface into the anterior chamber

Question 4

How does it look on electron microscope from a biopsy

Answer 4

Splitting of the lamina densa