ARPKD

Question 1

ARPKD is less common than the dominant subtype. TRUE/FALSE?

Answer 1

TRUE

Question 2

The causative gene is located on which chromosome?

Answer 2

located on chromosome 6

Question 3

What does the faulty gene encode for?

Answer 3

encodes fibrocystin
=> Protein important for normal renal tubule development.

Question 4

When is diagnosis of ARPKD usually made?

Answer 4

prenatal/early infancy

Question 5

How is ARPKD diagnosed

Answer 5

• prenatal US
• abdominal masses/renal failure in infancy

Question 6

What other syndrome may newborns present with in ARPKD?

Answer 6

May have features consistent with Potter’s syndrome due to oligohydramnios.

Question 7

Describe the liver involvement found in ARPKD

Answer 7

• portal and interlobular fibrosis.

Question 8

Renal biopsy findings in ARPKD

Answer 8

• multiple cylindrical lesions at right angles to the cortical surface