ADPKD

Question 1

ADPKD Type 1 - chromosome affected?

Answer 1

16

Question 2

ADPKD Type 2 - chromosome affected?

Answer 2

4

Question 3

Which of ADPKD Type 1 or Type 2 is more common?

Answer 3

ADPKD Type 1

Question 4

Which type of of ADPKD presents with earlier renal failure?

Answer 4

ADPKD Type 1

Question 5

Screening investigation for relatives

Answer 5

US abdomen and renal tract

Question 6

US diagnostic criteria (for patients with a positive family Hx)

Answer 6

2 cysts, unilateral or bilateral, if aged < 30 years

2 cysts in both kidneys if aged 30-59 years

4 cysts in both kidneys if aged > 60 years

Question 7

What medication can be used to slow the progression of cyst development in ADPKD?

Answer 7

Tolvaptan

Question 8

Criteria for starting tolvaptan

Answer 8

• CKD stage 2/3 at start of treatment
• rapidly progressing disease

Question 8

Mechanism of action of tolvaptan

Answer 8

vasopressin receptor 2 antagonist

Question 9

Clinical features of ADPKD

Answer 9

hypertension
recurrent UTIs
flank pain
haematuria
palpable kidneys
renal impairment
renal stones

Question 10

Give examples of extra-renal manifestations of ADPKD

Answer 10

liver cysts + hepaomegaly
berry aneurysms (SAH)
valvular heart disease
aortic root dilation
aortic dissection

cysts in other organs: pancreas, spleen; very rarely: thyroid, oesophagus, ovary