Polycystic Kidney Disease Flashcards
What is polycystic kidney disease?
A genetic disorder characterized by the growth of numerous cysts in the kidneys
What types of PKD are there? Which is the most common?
Autosomal dominant (most common)
Autosomal recessive
PKD is not a systemic disease.
True or false?
False!
It can affect the liver, pancreas, heart, brain and gut as well as the kidney
How does PKD manifest in the brain?
Causes intercranial aneurysms leading to sub-arachnoid haemorrhages
How does PKD manifest in the heart?
Causes diseases of the heart valves: mitral valve prolapse
How does PKD manifest in the liver?
Liver cysts
How does PKD manifest in the gut?
Diverticula
Describe the pathophysiology of PKD?
2 genes are affected: polycystin 1 + 2
These 2 proteins usually work together to regulate epithelia function
When they don’t work, the epithelium becomes hyper-proliferative
They pump fluid when they shouldn’t
Creating cysts
Which genes are affected in PKD?
What do they usually do?
Polycystin 1 and 2
They usually regulate epithelial function
At what age does PKD present?
Age 30-40
How is PKD picked up?
Screening (indicated by PKD in family members)
Incidental finding
Presentation with symptoms
What are the clinical features of PKD?
Asymptomatic
Lumbar pain Haematuria Proteinuria Hypertension Infection Stones
What is a cyst?
A fluid filled sac, lined by living cells
How does a cyst develop?
Cell proliferation
Form diverticula from the tubular lumen of the kidney
These get bigger and fill with fluid
Then they become cysts
Investigation of PKD?
Palpate: if they are very enlarged they can be palpable
Urine sample:
- check for protein
- check for blood
Blood:
- eGFR (using creatinine levels)
USS: swollen, irregular, cyst covered kidney will be seen
CT or MRI
Screening of affected family members
