Polycystic Kidney Disease (0)

Question 1

What is PCKD?

Answer 1

Genetic condition where kidneys develop multiple fluid filled cysts

Question 2

Diagnosing PcKD?

Answer 2

USS

Genetic testing

Question 3

PCKD AD Gene?

Answer 3

PKD1

Chromosome 16

Question 4

PCKD AR gene?

Answer 4

PKD2

Chromosome 4

Question 5

Extra-renal presentation of PCKD?

Answer 5

• Cerebral aneurysms
• Hepatic, splenic, pancreatic, ovarian cysts
• Cardiac valve disease
• Colonic diverticula
• Aortic root dilation

Question 6

Complications of PCKD?

Answer 6

Chronic loin pain 
HT 
CVD 
Gross haematuria 
Renal stones 
ESRF

Question 7

Presnetation of AR PCKD

Answer 7

-Often presents in pregnancy with oligohydramnios

underdevelopment of lungs
&
dysmorphic features (ear cartilage underdeveloped, low set ears and flat nasal bridge)

Question 8

Management of AR PCKD?

Answer 8

Tolvaptan: slows development of cysts

-Vasopressin antagonist