Inherited kidney disease

Question 1

Which genes on which chromosomes are implicated in ADPKD?

Answer 1

PKD1 (chr. 16)- 85% of cases

PKD2 (chr. 4)- 15% of cases

Question 2

How does ADPKD present?

Answer 2

Renal enlargement, abdominal pain, haematuria, cyst infection, hypertension, renal failure

Question 3

What are the extra-renal manifestations of ADPKD?

Answer 3

Liver cysts
Intracranial aneurysm (may lead to subararachnoid haemorrhage)
Mitral/aortic valve prolapse
Diverticular disease
Herniae

Question 4

How is ADPKD diagnosed?

Answer 4

Radiologically- presence of multiple bilateral cysts

Mutation analysis

Question 5

What is the mainstay of treatment of ADPKD?

Answer 5

Aggressive blood pressure control

Question 6

Histologically where do cysts appear from in ARPKD?

Answer 6

Collecting duct system

Question 7

Where is the gene for ARPKD located?

Answer 7

Chr. 6

Question 8

When should Alports syndrome be suspected?

Answer 8

Haematuria + sensorineural hearing loss

Question 9

What is the pattern of inheritance of most cases of Alport’s syndrome?

Answer 9

X-linked recessive mutations in COL4A5

Question 10

What is the characteristic feature of Alport’s syndrome on renal biopsy?

Answer 10

Variable thickness glomerular basement membrane with splitting of the lamina densa

Question 11

What is Anderson-Fabry disease caused by?

Answer 11

Inborn error of glycosphingolipid metabolism- X-linked