PKD Flashcards
1
Q
mutation of which gene on which chromosome causes ARPKD?
A
2
Q
what does the PKHD1 gene code for and what does this protein do?
A
3
Q
when is ARPKD usually picked up?
A
4
Q
what two findings are usually picked up by antenatal scans if the baby has ARPKD?
A
5
Q
what’s the prognosis for ARPKD?
A
6
Q
mutation of what gene on which chromosome causes ADPKD?
A
7
Q
what does the PKD1 gene code for?
A
8
Q
standard diagnostic test for ADPKD?
A
9
Q
most cases of ADPKD are asymptomatic, if it does become symptomatic what age does this usually present by and with what symptom?
A
10
Q
what’s the prognosis for ADPKD?
A
