polycystic kidney disease Flashcards

1
Q

autosomal dominant polycystic kidney disease have a risk of

A

Cyst rupture
Cyst infection
CKD
Subarachnoid haemorrhage due to aneurysm
Intracerebral haemorrhage due to hypertension

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2
Q

caused by what gene mutations

A

PKD1gene on chromosome 16 or PKD2 on chromosome 4

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3
Q

symptoms and signs

A

Renal:

Flank pain and haematuria
Patients may present with flank pain, fever and urinary symptoms if they have a cyst infection
Hypertension
Renal failure (slowly progressive CKD)

Extra-renal:

Extrarenal cysts e.g. liver, pancreas, spleen
Intracranial berry aneurysms commonly at the junction of the anterior communicating artery and anterior cerebral artery
Mitral valve prolapse, aortic regurgitation
Diverticular disease

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4
Q

investigations

A

US
CT and MRI to determine extent of cystic disease

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