Flashcards in Inherited renal diseases Deck (20):
A 10 year old presents with hearing loss and haematuria
In what condition would a biopsy show thickening of the glomerular basement membrane with splitting of the lamina densa?
How is alports sydrome inherited?
What is the pathological problem in alports sydnrome?
Mutation leads to defect in type 4 collagen
What kind of kidney disease is alports syndrome?
Which genetic mutation in APKD is most common?
PKD1. This is also more aggressive
What do you see pathologically in a patient with ADPKD?
Massive cyst enlargement
Epithelial lined cysts arise from renal tubules
Where in the kidney do they cysts from ADPKD arise from?
Aside from cysts what else might you get in ADPKD?
Where else might patients get cysts in ADPKD?
List the renal features of ADPKD
Reduced urine concentration ability
What vascular complication is often seen in patients with ADPKD?
Berry aneurysms int he circle of willis
What cardiac disease are seen in ADPKD?
Mitral/Aortic valve prolapse
What two abdominal conditions are more common in patients with ADPKD?
How do you diagnose ADPKD?
USS - presence of multiple, bilateral cysts
On which form of imaging does ADPKD show clearest?
How do you manage a patient with ADPKD?
Dialysis and transplantatioon if kidneys fail
Where do the cysts arise from in autosomal recessive kidney disease?
Collecting duct system
In which disease do you get clusters of dark red to blue angiokeratomas in the umbilical area?
Angiokeratoma - Fabrys disease