polycystic kidney disease

Question 1

what is polycystic kidney disease?

Answer 1

• formation of fluid filled cysts throughout renal parenchyma

Question 2

what does polycystic kidney disease cause?

Answer 2

causing bilateral enlargement and damage of kidneys

Question 3

what are the types of causes of polycystic kidney disease?

Answer 3

• autosomal recessive
• autosomal dominant

Question 4

what are the autosomal recessive causes of polycystic kidney disease?

Answer 4

• more rare
• variable signs
• may present in infancy with multiple renal cysts and congenital fibrosis
• no specific treatment

Question 5

what are the autosomal dominant causes of polycystic kidney disease?

Answer 5

• more common
• 85% mutated PKDI
• 15% mutated PKD2
• affects males more at 20-30 y
• MRI family screening important

Question 6

what is the pathology behind polycystic kidney disease?

Answer 6

1. PKDI+2 code for polycystin- ca2+ channel
2. in cilia of nephron, when filtrate passes, cilia move and polycystic open
3. ca2+ influx inhibits excessive growth
4. if PKD mutated= less ca2+ influx and therefore cilia excessive growth
5. formation of cysts

Question 7

what are the symptoms behind polycystic kidney disease?

Answer 7

• bilateral flank/ back or abdo pain
• haematuria
• hypertension
• extra renal cysts ( esp in circle of willis- berry aneurysm-if ruptured- subarachnoid hemorrhage)
• electrolyte abnormalities

Question 8

how is polycystic kidney disease treated?

Answer 8

• non curative
  -manage symptoms

Question 9

how is polycystic kidney disease diagnosed?

Answer 9

• kidney USS- enlarged bilateral kidney with multiple cysts
• genetic testing and family history of PKD
• urine dipstick
• U + E