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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

In which condition do you get shrunken kidneys, cysts in the renal medulla and reduced urine concentrating ability?

Medullary cystic disease