Genetic Disorders

Question 1

Is polycystic kidney disease usually autosomal dominant or autosomal recessive?

Answer 1

Can be either, although more likely autosomal dominant.

Autosomal recessive form mostly seen in children.

Question 2

Which gene is most commonly seen in ADPKD?

Answer 2

PKD1 gene on chromosome 16

Seen in 85% of cases.

Question 3

Reduced ability to concentrate urine, chronic pain, hypertension, haematuria, and renal failure are all features associated with which condition?

Answer 3

Autosomal dominant polycystic kidney disease

Question 4

What is the most common extra-renal manifestation of ADPKD?

Answer 4

Liver cysts

Question 5

Which extra-renal feature of ADPKD should be screened for in those with a family history of the condition?

Answer 5

Berry aneurysms

Question 6

How is ADPKD diagnosed?

Answer 6

USS is first-line.

If unclear, carry out CT/MRI - may also use genetic testing.

Question 7

Which drug is used to slow loss of renal function in ADPKD?

Answer 7

Tolvaptan (an ADH receptor antagonist)

Question 8

Which tissue is affected by alport’s syndrome?

Answer 8

Type IV collagen

It is an X-linked disorder.

Question 9

What should be suspected in a child with microscopic haematuria and hearing loss?

Answer 9

Alport’s syndrome