Polycystic Kidney Disease Flashcards
What type of condition is polycystic kidney disease?
Genetic condition
What is polycystic kidney disease characterised by?
The presence of cysts on both kidneys
What are the two forms of polycystic kidney disease?
Autosomal dominant
Autsomal recessive
How do the cysts affect the kidneys?
They cause the kidneys to enlarge and lose function over time
What is Autosomal dominant polycystic kidney disease the most common cause of?
Most common inherited cause of kidney disease
What is the prevalence of ADPKD?
1/1000
What are the 2 mutations associated with ADPKD?
PKD 1 on chromosome 16
PKD 2 gene on chromosome 4
What is the more common mutation that causes ADPKD?
PKD 1 mutation on chromosome 16
What are the main extra-renal manifestations of ADPKD?
Hepatic cysts
Cerebral aneurysm (subarachnoid)
How is ADPKD diagnosed?
Ultrasound
Genetic testing
What is the ultrasound diagnostic criteria for ADPKD in someone less than 30?
two cysts, unilateral or bilateral
What is the ultrasound diagnostic criteria for ADPKD in someone 30-59?
Two cysts in both kidneys
What is the ultrasound diagnostic criteria for ADPKD in someone older than 60?
Four cysts in both kidneys if aged > 60 years
What are the main features of ADPKD?
hypertension
recurrent UTIs
flank pain
haematuria
palpable kidneys
renal impairment
renal stones
When does end stage renal failure tend to occur in those with ADPKD?
At the mean age of 50
What type of cerebral aneurysm is common in those with ADPKD?
Berry aneurysm- which can result in a subarachnoid haemorrhage
What is Autosomal recessive polycystic kidney disease caused by?
A mutation on chromosome 6
What is the difference in severity of Autosomal recessive and autosomal dominant polycystic kidney disease?
Autosomal recessive is rarer and a lot more severe
What does autosomal recessive PKD usually result in?
Non-viable pregnancy or death in early infancy
How can autosomal recessive PKD result in a non-viable pregnancy or early death?
Due to oligohydramnios as the baby doesn’t produce enough urine
What can oligohydramnios result in?
Underdevelopment of the lungs- respiratory failure
How can a child with autosomal recessive PKD present?
With features of Potter’s syndrome secondary to oligohydramnios
What occurs in all patients with autosomal recessive PKD?
Liver scarring
What would a renal biopsy of autosomal recessive polycystic kidney disease show?
Multiple cylindrical lesions at right angles to the cortical surface
What is the first line management of ADPKD?
Tolvaptan
What is tolvaptan?
Vasopressin receptor 2 antagonist
How does Tolvaptan work?
Slows the progression of cyst development and renal insufficiency
What are the other forms of management for ADPKD?
Antihypertensives- hypertension
Analgesia- renal colic related to stones or cysts.
Antibiotics for infection. Drainage of infected cysts
Dialysis for ESRF
Renal transplant ESRF
What is used to screen for polycystic kidney disease?
Ultrasound
