PKD

Question 1

What are the two different types?

Which is more common?

Answer 1

ADPKD - more common

ARPKD

Question 2

What are the two different types of ADPKD

Answer 2

Type 1:

• 85% of cases
• Chromosome 16 mut
• ESRF 50s

Type 2:

• 15% of cases
• Chromosome 4 mut
• ESRF 70s

Question 3

What is the main RF?

Therefore, what’s important to consider?

Answer 3

FH

Family screening

Question 4

What is the pathophysiology?

Answer 4

Mechanical compression, apoptosis of healthy tissue and reactive fibrosis

Some have heart valve disorders

Question 5

What other life-threatening manifestation can it be associated with?

Answer 5

Berry aneurysms - cause SAH if rupture

Question 6

How does it present?

Answer 6

Maybe clinically silent for years - importance of screening

Usually present 20y+

Question 7

What is it, what does it cause and what other organs can it affect?

Answer 7

Cycts on kidneys

Causes kidney enlargement = eventually renal failure

Also affects the liver (hepatic cysts), pancreas, heart and brain

Question 8

Name some common extra-renal manifestations

Answer 8

Hepatic cysts - don't affect hepatic function
Pancreatic and intestinal cysts
Colonic diverticula
Inguinal + abdo wall hernia
Valvular heart disorders
Coronary A aneurysms 
Cerebral aneurysms

Question 9

When does it present?

Answer 9

Usually asx till 20s

Question 10

What are the SX?

Answer 10

Flank pain 
Abdominal pain
Lower back pain 
Recurrent UTI
HTN
Renal stones
CKD
Haematuria 
HF 2nd to valvular disorders

Question 11

Give 3 signs

Answer 11

Haematuria
HTN
Proteinuria

Question 12

How is dx made?

Answer 12

Abdominal USS

Others:

• CT/MRI
• Genetic testing

Question 13

How is it MX?

Answer 13

Counselling
Family screening
Monitor disease progression
RX HTN, stones, UTI

Surgery to remove cysts/ kidney to MX pain

?tolvaptan

Question 14

What is the USS dx criteria?

Answer 14

• 2 cysts, unilateral/bilateral, <30y
• 2 cysts in both kidneys, 30-59y
• 4 cysts in both kidneys >60y

Question 15

What other IX than USS can you do?

Answer 15

Urine MCS

Blood:

• FBC - Hb ?high due to high EPO
• Kidney function tests
• Bone profile

Question 16

What is Tolvaptan and who is it indicated for?

Answer 16

Vasopressin receptor 2 antagonist

Recommended to slow progression of cyst development and renal insufficiency only if:

• stage2/3 CKD
• rapidly progressing disease and
• discount agreed in pt access scheme

Question 17

What is ARKPD?

Answer 17

AR
Less common
Chromosome 6 defect

Question 18

How does ARKPD present?

Answer 18

Infancy with multiple renal cysts + congenital hepatic fibrosis

Oligohydramnios in pregnancy as fetus does not produce enough urine

Oligohydramnios = underdeveloped lungs = respiratory failure shortly after birth

Question 19

How is ARPKD dx made?

Answer 19

Prenatal US/ early infancy

• abdo mass and renal failure

Question 20

What syndrome might newborns have with ARPKD and why?

Answer 20

Potter’s syndrome

2nd to oligohydramnios

Question 21

When does ESRF occur in ARPKD?

Answer 21

In childhood

Poor prognosis

Question 22

What is the MX?

Answer 22

Tolvaptan - slows development of cysts and progression of renal failure
- initiated by a specialist

Supportive MX:
Anti-HTN 
Analgesia - for renal colic
Abx/ drainage - infections
Dialysis - for ESRF
Renal transplant 

Other:

• genetic counselling
• avoid contact sport = risk of rupture
• avoid anti-inflammatory medications and anti-coagulants
• regular USS
• regular bloods - renal function
• regular BP
• MR angiography - in first degree relatives of those with SAH + ADPKD