Cystic Kidney Disease

Question 1

What are autosomal dominant causes of cystic kidney disease?

Answer 1

• ADPKD
• Tuberous Sclerosis
• Von Hippel Lindau
• Medullary cyst disease

Question 2

What are autosomal recessive causes of cystic kidney disease?

Answer 2

• ARPKD

- Juvenile onset Nephronphthisis

Question 3

What are developmental causes of cystic kidney disease?

Answer 3

• Medullary sponge kidney
• Multicystic dysplastic kidneys
• Pyelocalyceal cysts

Question 4

What are acquired causes of cystic kidney disease?

Answer 4

• Simple cysts
• Acquired renal cystic disease
• Hypokalaemia related cysts

Question 5

What is the commonest genetic renal disease?

Answer 5

ADPKD

Question 6

What is the pathology of ADPKD?

Answer 6

o Renal cysts develop and grow over time, leading to compression of the normal renal architecture and intra-renal volume

Question 7

What are the extra-renal effects of ADPSK?

Answer 7

• Berry aneurysms
• Liver cysts
• Pancreatic cysts
• Spleen cysts
• Mitral valve prolapse
• Diverticular disease

Question 8

What are the complications of ADPKD?

Answer 8

o	Chronic loin pain
o	HTN
o	CVD
o	Gross haematuria (cyst rupture, resolves in a few days)
o	Renal stones
o	ESRD occurs at mean age of 50yrs

Question 9

How do you manage ADPKD?

Answer 9

• Monitor renal function and size
• Family screening
• Monitor CVD
• BP control from childhood is essential
• Nephrectomy for severe pain and poor function
• Tolvaptan

Question 10

What is ARPKD associated with?

Answer 10

Congenital hepatic fibrosis

Question 11

How does ARPKD present?

Answer 11

In pregnancy with oligohydramnios as the fetus doesn’t produce enough urine
o Potter’s syndrome = physical characteristics that develop when there is too little amniotic fluid during pregnancy
o Causes underdevelopment of the lungs = respiratory failure shortly after birth

Question 12

What can cause acquired cystic disease?

Answer 12

• Age

- ESRD

Question 13

What is von hippel-lindau disease?

Answer 13

Autosomal dominant disease that presents with benign tumours:
o CNS haemangioblastoma
o Retinal angioma
o Renal lesions

And renal manifestations:
o Cortical renal cyst (75%)
o Renal cell carcinoma (20-45%)

Question 14

How do you screen for von hippel-lindau disease?

Answer 14

Asymptomatic patient
o Annual USS
o CT abdomen every 2 years unless multiple cysts

At risk relatives
• CT abdomen every 3 years