Polycystic Kidney Disease

Exam Cram

• Polycystic kidney disease is a genetic condition resulting in cysts on kidney, liver and cerebral berry aneurysms 

• Presentation: haematuria, progressive renal failure, family history

• Diagnosis: gene abnormality PKD; screening AUSS

• Management: ACEi for HTN, Na restriction < 2g/d

Outline

Background

• Inheritance: autosomal dominant or recessive

• Gene abnormality: PKD1, PKD2

• Autosomal dominant 85% cases from PCKD-1 defect on chromosome 16

• Associations Subarachnoid Haemorrhage (berry aneurysm)

Assessment

History

• Haematuria

• Thunderclap headache (SAH)

Examination

• Hypertension (disease) 

Investigations

• Rising creatinine

Diagnosis

Diagnostic criteria: genetic testing

• Screening test for families: AUSS (90% over age 20)

Differentials: 

Management

Acute

• ACE inhibitor for HTN

• Na restriction < 2g/d

Long term

• CKD prognosis: 50% end up with RRT, 7% of  total RRT 

Med Reg Notes

Type 1 vs type 2

• Type 1: 85%, chromosone 16

• Type 2: 15%, chromosone 4

Written 2024.