Inherited renal diseases Flashcards
A 10 year old presents with hearing loss and haematuria
Alports syndrome
In what condition would a biopsy show thickening of the glomerular basement membrane with splitting of the lamina densa?
Alports
How is alports sydrome inherited?
X linked
What is the pathological problem in alports sydnrome?
Mutation leads to defect in type 4 collagen
What kind of kidney disease is alports syndrome?
Glomerulonephritis
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?
Renal tubules
Aside from cysts what else might you get in ADPKD?
Benign adenomas
Where else might patients get cysts in ADPKD?
Liver
List the renal features of ADPKD
Reduced urine concentration ability Chronic pain Hypertension Haematuria Cyst infection Renal failure
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
Valvular disease
What two abdominal conditions are more common in patients with ADPKD?
Hernias
Diverticular disease
How do you diagnose ADPKD?
USS - presence of multiple, bilateral cysts
Renal enlargement
On which form of imaging does ADPKD show clearest?
MRI
How do you manage a patient with ADPKD?
Control hypertension
Keen hydrated
Reduce proteinuria
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
In which condition do you get shrunken kidneys, cysts in the renal medulla and reduced urine concentrating ability?
Medullary cystic disease
