Polycystic Kidney disease

Question 1

Define Polycystic Kidney disease

Answer 1

PKD is a genetic disorder with two forms-one dominant and one recessive

characterised by renal cysts, systemic cysts and other systemic involvements

Question 2

Aetiology and risk factors of Polycystic Kidney disease

Answer 2

2 genes-PDK1-85% of cases cases-polycystin1
PDK 2-15% of cases
Renal cysts develop and grow over time, and destroy normal kidney architecture
Unclear why the cysts form

risk factors:
FHx of PKD
FHx of renal related deaths

Question 3

Epidiemology of Polycystic Kidney disease

Answer 3

AD PKD occurs all over the world-
variance between 1 in 400 and 1 in 1000 (quite common)

AR PDK-1 in 10000 at best

Question 4

Signs and Sx of Polycystic Kidney disease

Answer 4

genetic so patients tend to present young
Common PC; finding HTN, in young patients
Abdo flank pain
heamaturia
“mass in sides”

microscipic heamturia can also be present
UTI Sx
headache if associate Cerebrovascular event

exam-palpate Kidneys easily
can palpate livers-it also causes polycystic liver disease (often asympto)
Cardiac murmurs
Abdo Hernia

Question 5

Investigations of Polycystic Kidney disease

Answer 5

If find large kidneys/liver and suspect-abdo USS-reveals bilateral cysts, many

CT-without FHx, 10 cysts are needed per kidney
with FHx-2 cysts if under 30, 3 under 60

Dipstick-heamaturia is common
Albumin can also be (signs of Left ventricular hypertrophy)
can show signs of UTI

lipid prolife-raised LDL
ECG-LVH