PKD

Question 1

Presentation

Answer 1

Bilateral flank masses
Ballotable masses
OR - nephrectomy scar, especially if renal transplant

Question 2

Differential diagnoses

Answer 2

Bilateral renal cysts - multiple simple cysts, tuberous sclerosis, von Hippel Lindau
Bilateral hydronephrosis
Amyloidosis

Question 3

Adult Polycystic Kidney Disease genetics

Answer 3

Type 1 - chromosome 16
Type 2 - chromosome 4 - less severe

Question 4

Features of ADPKD

Answer 4

Flank and abdo pain
Acute pain - haemorrhage, infection, torsion

Question 5

Extra renal manifestations of ADPKD

Answer 5

Cerebral aneurysms - SAH,
Liver cysts - 70% of cases
Other extra-renal cysts - pancreatic and splenic
Valvular heart disease - AR, mitral valve prolapse

Question 6

Management

Answer 6

Manage acute flank pain -
MAanage renal failure

Question 7

Von Hippel Lindau

Answer 7

Autosomal dominant - cerebellar, retinal and spinal haemangioblastomas
Increased risk of RCC and phaechromocytomas