DIFFERENTIAL DIAGNOSIS OF FAMILIAL HEMARURIAS

Question 1

What are the 2 diseases that can cause Type IV collagen defects?

Answer 1

1. TBMN
2. Alport syndrome

Question 2

What are the 3 prerequisites of Alport syndrome?

Answer 2

1. characteristic clinical features
2. lamellated GBM with an abnormal collagen IV composition
3. COL4A5 mutation (X-linked disease) or two COL4A3 or two COL4A4 mutations in trans (autosomal recessive disease)

Question 3

What is the mutaion in X-linked Alport Syndrome?

Answer 3

COL4A5 MUTATION

Question 4

What are the 2 mutations in AR Aport Syndrome?

Answer 4

• 2 COL4A3
• 2 COL4A4

Question 5

What are the 3 features of TBMN?

Answer 5

1. persistent isolated glomerular hematuria
2. thinned GBM
3. heterozygous COL4A3 or COL4A4 (but not COL4A5) mutation

Question 6

What are the 2 mutations in TBMN?

Answer 6

1. COL4A3
2. COL4A4