Polycystic kidney disease

Question 1

What is the aetiology of ADPKD?

Answer 1

PKD genes cause mutations in polycystin 1 and 2, which leads to cyst formation

Question 2

Where are the PKD genes located?

Answer 2

PKD1 is located on chromosome 16
PKD2 is located on chromosome 4

Question 3

What is the presentation of ADPKD?

Answer 3

Flank pain
Haematuria
Fever and systemic illness
Polyuria
Nocturia
CKD

Question 4

What examination findings are common in ADPKD?

Answer 4

Bilateral large masses in the flanks
Hepatomegaly (liver cysts)
Hypertension

Question 5

What are the differentials of ADPKD?

Answer 5

Simple renal cysts
Acquired cystic kidney disease
ARPKD
Tuberous sclerosis
Von-hippel lindau disease

Question 6

What investigation is diagnostic of ADPKD?

Answer 6

USS kidneys

Question 7

What other investigations are used in the diagnosis of ADPKD?

Answer 7

Urine dip
FBC - polycythemia
U&Es, LFTs
CT/MRI - more sensitive than USS

Question 8

What advice should be given to patients with ADPKD?

Answer 8

Advice to avoid contact sport
Smoking cessation
Healthy diet and regular exercise
Avoid nephrotoxic drugs and oestrogens

Question 9

What is the medical management of ADPKD?

Answer 9

Antihypertensives
- ACE inhibitor or ARB
Tolvaptan - slows cyst growth
Analgesia

Question 10

What are the surgical management options for ADPKD?

Answer 10

Drainage or renal cysts
Nephrectomy
Renal transplant

Question 11

What are the complications of ADPKD?

Answer 11

Cyst haemorrhage
Cyst infection
Recurrent UTI
Liver cysts
Intracranial aneurysms
Chronic pain
End stage renal disease