Polycystic Kidney Disease

Question 1

def

Answer 1

part of a group of disorders characterised by renal cysts and numerous systemic and extrarenal manifestations

Question 2

what types of PKD are there

Answer 2

autosomal dominant PKD

autosomal recessive PKD

Question 3

which type of PKD is more common

Answer 3

autosomal dominant PKD

Question 4

epi

Answer 4

autosomal dominant PKD>autosomal recessive PKD
very common, however not all cases are symptomatic
associated with ESRD

Question 5

aetiology

Answer 5

genetic

Question 6

what genes are associated with autosomal dominant PKD

Answer 6

PKD1 which encodes polycystin 1 (very common)

PKD2 which encodes polycystin 2

Question 7

how do PKD1 and PKD2 cause autosomal dominant PKD

Answer 7

genes develop a mutation which leads to loss of polycystin function and cyst development

Question 8

what are patients with PKD at risk of

Answer 8

intracranial aneurysms leading to intracranial haemorrhage

Question 9

risk factors

Answer 9

FHx of autosomal dominant PKD and cerebrovascular events (intracranial haemorrhage due to intracranial anuerysms)

Question 10

history

Answer 10

FHx of autosomal dominant PKD or ESRD, or cerebrovascular event
abdominal/flank pain
haematuria
symptoms of a UTI (dysuria, urgency, suprapubic pain, fever)

Question 11

what does flank pain in PKD indicate

Answer 11

UTI involving renal cyst

Question 12

what is the link between PKD and diverticulosis/diverticulitis

Answer 12

increased incidence of diverticulosis or diverticulitis with PKD

Question 13

examination

Answer 13

palpable kidneys (suggestive of autosomal dominant PKD)
HTN

Question 14

investigations

Answer 14

1 renal USS
-if <30yrs, at least 2 unilateral or bilateral cysts
-if 30-59yrs at least 2 cysts in each kidney
-if >60yrs at least 4 cysts in each kidney
2 CT/MRI abdo/pelvis
-if no FHx, at least 10 cysts in each kidney
-if FHx, see renal USS
3 urinalysis or gram stain + culture
-UTI

Question 15

why might an ECG be performed in PKD

Answer 15

due to HTN causing LVH

Question 16

a 30y/o woman with a FH of PKD presents to the renal clinic for evaluation. No history of flank pain, pylonephritis or haematuria but reports 2 UTIs over the last year. She was recently screened with a renal USS, this showed several small echogenic foci and small cystic changes in the liver, several bilateral kidney cysts were seen. No history of migraines or headaches, no FHx of aneurysms or cerebrovascular events. O/E - normal

Answer 16

PKD