Cystic Kidney Diseases

Question 1

What are the different autosomal dominant cystic kidney diseases?

Answer 1

ADPKD
Tuberous sclerosis
Von Hippel Lindau Disease
Medullary Cystic Disease

Question 2

What are the different autosomal recessive cystic kidney diseases?

Answer 2

ARPKD (childhood)

Juvenile onset Nephrophthisis

Question 3

What are the different X linked cystic kidney diseases?

Answer 3

Orofacial digital syndrome
Chromosomal disorders (trisomy 13/18/21)

Question 4

What are the different developmental cystic disease?

Answer 4

Medullary sponge
Multicystic dysplastic
Pyelocalyceal cysts

Question 5

What are the different acquired cystic diseases?

Answer 5

Simple cysts
Acquire cystic disease (ESRD)
Hypokalaemia related cysts

Question 6

Where are simple cysts usually located?

Answer 6

Unilocular and in the cortex.

This does not cause kidneys to enlarge

Question 7

How are simple cysts classified?

Answer 7

Bosniak classification to rule out cancer

Question 8

Who most likely gets acquired renal cystic disease?

Answer 8

those who have been on dialysis

Question 9

What symptoms do cysts cause?

Answer 9

Pain

Haematuria

Question 10

How many people are affected by ADPKD?

Answer 10

1 in 800

Question 11

What is the prognosis of ADPKD?

Answer 11

Approximately 50% reach ESRD by 60 years

Question 12

What are extrarenal manifestations of ADPKD?

Answer 12

Berry aneurysms, SAH
Liver, pancreas, spleen cysts
MV prolapse
Diverticulitis

Question 13

What questions do you need to ask someone who has PCKD?

Answer 13

FH - SAH, liver, pancreas, spleen, MV and diverticulitis

Question 14

How do we manage ADPKD?

Answer 14

Monitory renal function and size
Family screening
Monitor BP and manage
Vasopressin antagonists
Nephrectomy if pain but otherwise no surgical role.

Question 15

What is von Hippel-Lindau disease?

Answer 15

AD
Presents with lots of benign tumours in CNS, retina and kidneys. Haematuria
Onset in 20s and 30s.

Question 16

What might VHL cause in the kidneys?

Answer 16

Cortical renal cyst
Renal cell carcinoma
Haemangioblastoma

Question 17

How do we treat VHL?

Answer 17

Can treat through surgery so monitor with USS yearly and CT every 3 years

Question 18

What in the history would suggest glomerular cuase of haematuria?

Answer 18

HTN
URTI recent
Systemic symptoms

Question 19

What do recurrent UTIs suggest?

Answer 19

GN!

IgA nephropathy

Question 20

What is tolvaptan?

Answer 20

Drug used in the treatment of ADPKD - vasopressin antagonist