polycyctic kidney disease

Question 1

define polycyctic kidney disease

Answer 1

autosomal dominant inherited disorder characterised by the development of multiple renal cysts that gradually expand and replace normal kidney substance

Question 2

most common mutation in polycystic kidney disease?

Answer 2

mutations in PKD1

Question 3

what is the rarer mutation in polycystic kidney disease?

Answer 3

mutations of PKD2

Question 4

presenting symptoms and signs?

Answer 4

• Flank Pain
• Recurrent UTIs
• Haematuria
• Hypertension
• Renal stones

Question 5

what is a dangerous association of polycystic kidney disease?

Answer 5

berry aneurysms

Question 6

what are extra renal manifestations of polycystic kidney disease?

Answer 6

berry aneurysms and SAH

Question 7

what is the most common extra-renal manifestation of polycystic kidney disease?

Answer 7

• Liver cysts resulting in hepatomegaly

Question 8

what other extra renal manifestations may occur?

Answer 8

• Cardiovascular effects: mitral valve prolapse, mitral/tricuspid regurg

Question 9

what investigation should be used for screening?

Answer 9

USS

Question 10

what investigation is gold standard?

Answer 10

CT

will show enlarged kidneys