Familial Glomerular Syndromes

Question 1

what are the main types of familial glomerular syndrome

Answer 1

Alport’s syndrome and Fabrys disease

Question 2

what inheritance pattern is seen with Alport’s syndrome

Answer 2

X linked inheritance

Question 3

what is the pathophysiology of Alport syndrome mutation

Answer 3

disorder of type IV collagen matrix, leads to deficient collagen matrix deposition

Question 4

what clinical features are seen in Alport’s syndrome

Answer 4

haematuria(characteristic), proteinuria seen later, extra renal(ocular, sensorineural deafness)

Question 5

in what patients should Alport’s syndrome be suspected

Answer 5

patients with microscopic haematuria and hearing loss

Question 6

what is used to diagnose Alport’s syndrome

Answer 6

renal biopsy, variable thickness GBM characteristic feature

Question 7

what is involved in the treatment of Alport’s

Answer 7

aggressive treatment of BP, proteinuria, the dialysis and transplantation as progresses
(no specific treatment)

Question 8

what does Fabrys disease affect

Answer 8

kidneys, lungs, liver and erythrocytes

Question 9

what clinical features are seen with Fabrys disease

Answer 9

renal failure, angiokeratomas(skin), cardiomyopathy, and more

Question 10

what is involved in the diagnosis of Fabrys disease

Answer 10

plasma/leukocyte assessment, renal biopsy, skin biopsy

Question 11

what is involved in the treatment of Fabrys disease

Answer 11

enzyme replacement, manage complications