Flashcards in Inherited renal diseases Deck (20):
1
A 10 year old presents with hearing loss and haematuria
Alports syndrome
2
In what condition would a biopsy show thickening of the glomerular basement membrane with splitting of the lamina densa?
Alports
3
How is alports sydrome inherited?
X linked
4
What is the pathological problem in alports sydnrome?
Mutation leads to defect in type 4 collagen
5
What kind of kidney disease is alports syndrome?
Glomerulonephritis
6
Which genetic mutation in APKD is most common?
PKD1. This is also more aggressive
7
What do you see pathologically in a patient with ADPKD?
Massive cyst enlargement
Epithelial lined cysts arise from renal tubules
8
Where in the kidney do they cysts from ADPKD arise from?
Renal tubules
9
Aside from cysts what else might you get in ADPKD?
Benign adenomas
10
Where else might patients get cysts in ADPKD?
Liver
11
List the renal features of ADPKD
Reduced urine concentration ability
Chronic pain
Hypertension
Haematuria
Cyst infection
Renal failure
12
What vascular complication is often seen in patients with ADPKD?
Berry aneurysms int he circle of willis
13
What cardiac disease are seen in ADPKD?
Mitral/Aortic valve prolapse
Valvular disease
14
What two abdominal conditions are more common in patients with ADPKD?
Hernias
Diverticular disease
15
How do you diagnose ADPKD?
USS - presence of multiple, bilateral cysts
Renal enlargement
16
On which form of imaging does ADPKD show clearest?
MRI
17
How do you manage a patient with ADPKD?
Control hypertension
Keen hydrated
Reduce proteinuria
Dialysis and transplantatioon if kidneys fail
18
Where do the cysts arise from in autosomal recessive kidney disease?
Collecting duct system
19
In which disease do you get clusters of dark red to blue angiokeratomas in the umbilical area?
Angiokeratoma - Fabrys disease
20