Cystic renal disease Flashcards
1
Q
Name two gene mutations associated with Cystic renal disease
A
PKD1 and PKD2
2
Q
Identify some of the clinical features of Cystic renal disease
A
Loin pain and haematuria loin or abdominal discomfort subarachnoid haemorrhage from berry aneurysm rupture hepatic cysts hypertension
3
Q
How does it present on physical examination? What is the gold standard for diagnosis?
A
Large, irregular kidneys
hepatomegaly
Ultrasound
4
Q
How is it managed?
A
Vasopressin receptor antagonists e.g. Tolvaptan
5
Q
What inheritance does juvenile nephronophthisis show?
A
Autosomal recessive
6
Q
What cystic condition presents with dilated collecting ducts, sponge-like medulla and cysts?
A
Medullary sponge kidney
