Polycystic Kidney Disease Flashcards

1
Q

What are the types of PKD?

A
  • Autosomal dominant

- Autosomal recessive

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2
Q

What are the genetic abnormalities classified as in ADPKD?

A
  • PKD1 (most common)
  • PKD2
  • PKD3
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3
Q

What chromosome is affected in PKD1?

A

16

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4
Q

How might patients with ADPKD present?

A
  • Loin pain
  • Hypertension
  • Enlargement of kidneys
  • Haematuria, kidney stones, or infection
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5
Q

What important condition is associated with ARPKD?

A

Berry aneurysms

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6
Q

What investigations may be done in ADPKD?

A
  • Urinalysis
  • Blood tests
  • Ultrasound
  • CT
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7
Q

What may be found on urinalysis in ADPKD?

A

Haematuria

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8
Q

What may be found on blood tests in ADPKD?

A

Polycythaemia

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9
Q

What causes polycythaemia in ADPKD?

A

Increased erythropoietin

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10
Q

What is the investigation of choice in ADPKD?

A

Ultrasound

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11
Q

What is found on ultrasound in ADPKD?

A

Polycystic kidneys (obvs)

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12
Q

When might ultrasound screening of relatives be particularly indicated in ADPKD?

A

If there are 2 unilateral cysts or one cyst in each kidney in patients at risk under 30

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13
Q

What is involved in conservative management of ADPKD?

A
  • Avoid contact sports
  • Reduce salt intake
  • Treat associated HTN
  • Manage concomitant infections, e.g. UTI, pyelonephritis
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14
Q

How should hypertension be managed in ADPKD?

A

Target 130/80 with ACE inhibitor

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15
Q

How can pain related to cyst formation in ADPKD be managed?

A
  • NSAIDs (seems sketchy to me but thats what the book says)

- Surgical removal of cysts (laparoscopic or drainage)

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16
Q

What are patients with ADPKD likely to eventually need?

A

Transplant or dialysis

17
Q

When is ARPKD far more likely to present?

A

Infancy or childhood (dominant usually presents in 30-40s)

18
Q

How might infants with ARPKD present?

A
  • Organomegaly
  • Kidney disease
  • Hepatic fibrosis
19
Q

When does kidney disease reach end stage when infants present with ARPKD?

A

Teenage years

20
Q

How does the presentation of ARPKD vary when it presents in childhood?

A

More likely to develop liver abnormalities, have variable degree of renal impairment

21
Q

What is the investigation of choice for ARPKD in infants?

A

Ultrasound

22
Q

What investigations may be used in children with ARPKD?

A

CT

23
Q

How might ARPKD be managed?

A

Infants require monitoring in intensive care, liver/renal transplants may be required in long term