ADPKD- Autosomal dominant polycystic kidney Disease

Question 1

Features of ADPKD Type 1?

Answer 1

85% of cases
Chromosome 16
Presents with renal failure earlier

Question 2

Features of ADPKD Type 2?

Answer 2

15% of cases
Chromosome 4

Question 3

renal impairment, haematuria, palpable liver edge, and a pan-systolic murmur + combined with a family history of chronic renal impairment raises suspicion of

Answer 3

ADPKD

Question 4

What is the next best investigation to assist with the diagnosis of ADPKD?

Answer 4

Renal Ultrasonography

Question 5

What cardio factors is ADPKD associated with

Answer 5

mitral valve prolaspe
mitral/tricuspid incompetence
aortic root dilation
aortic dissection

Question 6

bilateral flank pain and haematuria

large, palpable kidneys bilaterally

Auscultation of the heart reveals a prominent systolic murmur with a mid-systolic click

Answer 6

ADPKD