Polycystic Kidney Disease Flashcards
What are the types of PKD?
- Autosomal dominant
- Autosomal recessive
What are the genetic abnormalities classified as in ADPKD?
- PKD1 (most common)
- PKD2
- PKD3
What chromosome is affected in PKD1?
16
How might patients with ADPKD present?
- Loin pain
- Hypertension
- Enlargement of kidneys
- Haematuria, kidney stones, or infection
What important condition is associated with ARPKD?
Berry aneurysms
What investigations may be done in ADPKD?
- Urinalysis
- Blood tests
- Ultrasound
- CT
What may be found on urinalysis in ADPKD?
Haematuria
What may be found on blood tests in ADPKD?
Polycythaemia
What causes polycythaemia in ADPKD?
Increased erythropoietin
What is the investigation of choice in ADPKD?
Ultrasound
What is found on ultrasound in ADPKD?
Polycystic kidneys (obvs)
When might ultrasound screening of relatives be particularly indicated in ADPKD?
If there are 2 unilateral cysts or one cyst in each kidney in patients at risk under 30
What is involved in conservative management of ADPKD?
- Avoid contact sports
- Reduce salt intake
- Treat associated HTN
- Manage concomitant infections, e.g. UTI, pyelonephritis
How should hypertension be managed in ADPKD?
Target 130/80 with ACE inhibitor
How can pain related to cyst formation in ADPKD be managed?
- NSAIDs (seems sketchy to me but thats what the book says)
- Surgical removal of cysts (laparoscopic or drainage)