ARPKD Flashcards
1
Q
ARPKD is less common than the dominant subtype. TRUE/FALSE?
A
TRUE
2
Q
The causative gene is located on which chromosome?
A
located on chromosome 6
3
Q
What does the faulty gene encode for?
A
encodes fibrocystin
=> Protein important for normal renal tubule development.
4
Q
When is diagnosis of ARPKD usually made?
A
prenatal/early infancy
5
Q
How is ARPKD diagnosed
A
- prenatal US
- abdominal masses/renal failure in infancy
6
Q
What other syndrome may newborns present with in ARPKD?
A
May have features consistent with Potter’s syndrome due to oligohydramnios.
7
Q
Describe the liver involvement found in ARPKD
A
- portal and interlobular fibrosis.
8
Q
Renal biopsy findings in ARPKD
A
- multiple cylindrical lesions at right angles to the cortical surface
