polycyctic kidney disease Flashcards

1
Q

define polycyctic kidney disease

A

autosomal dominant inherited disorder characterised by the development of multiple renal cysts that gradually expand and replace normal kidney substance

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2
Q

most common mutation in polycystic kidney disease?

A

mutations in PKD1

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3
Q

what is the rarer mutation in polycystic kidney disease?

A

mutations of PKD2

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4
Q

presenting symptoms and signs?

A
  • Flank Pain
  • Recurrent UTIs
  • Haematuria
  • Hypertension
  • Renal stones
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5
Q

what is a dangerous association of polycystic kidney disease?

A

berry aneurysms

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6
Q

what are extra renal manifestations of polycystic kidney disease?

A

berry aneurysms and SAH

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7
Q

what is the most common extra-renal manifestation of polycystic kidney disease?

A

• Liver cysts resulting in hepatomegaly

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8
Q

what other extra renal manifestations may occur?

A

• Cardiovascular effects: mitral valve prolapse, mitral/tricuspid regurg

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9
Q

what investigation should be used for screening?

A

USS

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10
Q

what investigation is gold standard?

A

CT

will show enlarged kidneys

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