ADPKD Flashcards

1
Q

what is ADPKD?

A

autosomal dominant polycystic
2 types: type 1 + type 2

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2
Q

what is the pathology of ADPKD?

A

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

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3
Q

what is the prevalence of ADPKD?

A

1 in 1000
caucasians
normally 40-60yo

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4
Q

describe ADPKD type 1 (% of cases, chromosome)

A

85% of cases
chromosome 16
presents with renal failure earlier

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5
Q

describe ADPKD type 2 (% of cases, chromosome)

A

15% of cases
chromosome 4

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6
Q

what is the presentation of ADPKD?

A

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

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7
Q

what screening investigation to you use for ADPKD?

A

abdominal ultrasound

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8
Q

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

A

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

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9
Q

when would you start management for patients with ADPKD?

A

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
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10
Q

what is the management for ADPKD?

A

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

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