Polycystic Kidney Disease Flashcards
1
Q
Define:
A
Autosomal dominant inherited disorder leading to multiple renal cysts
2
Q
Aetiology/risk factors:
A
85% due to mutations in PDK1 on Chr 16 –> faster and earlier onset.
or PDK2 on chr 4 (15%) –> slower and later onset.
Proliferative and hyperplastic abnormality of tubular epithelium.
Leads to compression to adjacent strictures.
3
Q
What are the extra-renal manifestations:
A
liver cysts Berry aneurysm or SAH Ovarian cysts diverticular disease aortic valve prolapse
4
Q
Epidemiology:
A
Most common inherited kidney disorder
Responsible for 10% of chronic renal failure
5
Q
Symptoms:
A
Hypertension Berry aneurysm or SAH Flank pain 20% = No FHx Present @ 30-40 years May be asymp Haematuria
6
Q
Why might you get flank pain?
A
Cysts are enlarged Stone formation Blood clot migration bleeding Infection
7
Q
Signs:
A
Abdo distension Enlarged cystic kidneys Palpable liver Hypertension Signs of chronic renal failure AAA or aortic valve disease signs
8
Q
Investigations:
A
US - this is the 1st line (may see bilaterally polycystic kidneys or liver cysts)
If the US is unclear then CT
Genetic tests for PKD2
