ADPKD

Question 1

what is ADPKD?

Answer 1

autosomal dominant polycystic
2 types: type 1 + type 2

Question 2

what is the pathology of ADPKD?

Answer 2

large cysts arising from all parts of nephron
progressive decline in renal function
70% ESRF by 70yo

Question 3

what is the prevalence of ADPKD?

Answer 3

1 in 1000
caucasians
normally 40-60yo

Question 4

describe ADPKD type 1 (% of cases, chromosome)

Answer 4

85% of cases
chromosome 16
presents with renal failure earlier

Question 5

describe ADPKD type 2 (% of cases, chromosome)

Answer 5

15% of cases
chromosome 4

Question 6

what is the presentation of ADPKD?

Answer 6

MISSHAPES
Mass- abdo mass + flank pain
Infected cyst
Stones
SBP high
Haematuria or haemorrhage into cyst
Aneursyms- berry -> SAH
Polyuria + nocturia
Extra-renal cysts- liver
Systolic murmur- mitral valve prolapse

Question 7

what screening investigation to you use for ADPKD?

Answer 7

abdominal ultrasound

Question 8

what is the ultrasound diagnostic criteria in patients with positive family history for ADPKD?

Answer 8

2 cysts (uni or bilateral) if <30yo
2 cysts in both kidneys if 30-59yo
4 cysts in both kidneys if >60yo

Question 9

when would you start management for patients with ADPKD?

Answer 9

to slow progression of cyst development + renal insufficiency if:

• they have CKD 2 or 3 at start of treatment
• evidence of rapidly progressing disease
• company provides it w discount greed in patient access scheme

Question 10

what is the management for ADPKD?

Answer 10

general:
increase water intake, decrease Na + caffeine
monitor UE + BP
genetic counselling
MRA screen for berry anuerysms

medical:
HTN aim <130/80- ACEi
rx infections
tolvaptan (vasopressin receptor 2 antagonist)

surgical:
pain may improve w laparoscopic cyst removal or nephrectomy

ESRF in 70& by 70yrs- dialysis or transplant