Inherited renal diseases

Question 1

A 10 year old presents with hearing loss and haematuria

Answer 1

Alports syndrome

Question 2

In what condition would a biopsy show thickening of the glomerular basement membrane with splitting of the lamina densa?

Answer 2

Alports

Question 3

How is alports sydrome inherited?

Answer 3

X linked

Question 4

What is the pathological problem in alports sydnrome?

Answer 4

Mutation leads to defect in type 4 collagen

Question 5

What kind of kidney disease is alports syndrome?

Answer 5

Glomerulonephritis

Question 6

Which genetic mutation in APKD is most common?

Answer 6

PKD1. This is also more aggressive

Question 7

What do you see pathologically in a patient with ADPKD?

Answer 7

Massive cyst enlargement

Epithelial lined cysts arise from renal tubules

Question 8

Where in the kidney do they cysts from ADPKD arise from?

Answer 8

Renal tubules

Question 9

Aside from cysts what else might you get in ADPKD?

Answer 9

Benign adenomas

Question 10

Where else might patients get cysts in ADPKD?

Answer 10

Liver

Question 11

List the renal features of ADPKD

Answer 11

Reduced urine concentration ability
Chronic pain
Hypertension
Haematuria
Cyst infection
Renal failure

Question 12

What vascular complication is often seen in patients with ADPKD?

Answer 12

Berry aneurysms int he circle of willis

Question 13

What cardiac disease are seen in ADPKD?

Answer 13

Mitral/Aortic valve prolapse

Valvular disease

Question 14

What two abdominal conditions are more common in patients with ADPKD?

Answer 14

Hernias

Diverticular disease

Question 15

How do you diagnose ADPKD?

Answer 15

USS - presence of multiple, bilateral cysts

Renal enlargement

Question 16

On which form of imaging does ADPKD show clearest?

Answer 16

MRI

Question 17

How do you manage a patient with ADPKD?

Answer 17

Control hypertension
Keen hydrated
Reduce proteinuria
Dialysis and transplantatioon if kidneys fail

Question 18

Where do the cysts arise from in autosomal recessive kidney disease?

Answer 18

Collecting duct system

Question 19

In which disease do you get clusters of dark red to blue angiokeratomas in the umbilical area?

Answer 19

Angiokeratoma - Fabrys disease

Question 20

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

Answer 20

Medullary cystic disease