genetic renal things Flashcards
1
Q
- sensorineural hearing loss
- ocular defects (anterior lenticonus)
- leiomyotamosis of oesophagus/genitalia
- microscopic haematuria
- late proteinuria
what?
A
Alport’s syndrome
2
Q
cause of Alports?
A
- X linked mutation in COL4A5 gene leads to collagenous matrix deposition
- disorder of type IV collagen matrix
3
Q
investigations + findings Alport’s?
A
Renal biopsy:
-variable thickness of GBM (due to splitting of the lamina densa)
4
Q
treatment- Alport’s?
A
- no specific treatment
- aggressive BP treatment
- dialysis/ transplantation
5
Q
Anderson Fabrys presentation?
A
- renal failure
- angiokeratomas
- cardiomyopathy
- valvular disease
- stroke
- tingling/burning/numb in extremities
- psychiatric manifestations
- lung manifestations
6
Q
Anderson Fabrys cause
A
- inborn error of glycosphingolipid metabolism (deficiency in alpha- galactosidase A)
- X linked lysosomal storage disease
7
Q
anderson Fabry investigations?
A
- plasma/ leukocyte alpha GAL activity
- renal biopsy
- skin biopsy
8
Q
Anderson Fabrys treatment?
A
- plasma/ leukocyte alpha GAL activity
- renal biopsy
- skin biopsy
9
Q
Anderson Fabrys management ?
A
- enzyme supplementation (FABRYZYME)
- management of complications
