PKD

Question 1

what is PKD?

Answer 1

a genetic condition where kidneys develop multiple fluid filled cysts

kidney functions is impaired

+ hepatic cysts
+ cerebral aneurysm
+ palpable and enlarged kidney O/E

Question 2

PKD inheritance

Answer 2

there are autosomal dominant AND autosomal recessive types

(AD is more common)

AD: PKD-1 chromosome 16 (85% of cases), PKD-2 chromosome 4 (15% of cases)

AR: chromosome 6. more rare and more severe, presents in pregnancy with oligohydramnios as the foetus does not produce enough urine.

Question 3

PKD diagnosis

Answer 3

USS

genetic testing

Question 4

extra-renal manifestations of PKD

Answer 4

Cerebral aneurysms
Hepatic, splenic, pancreatic, ovarian and prostatic cysts
Cardiac valve disease (mitral regurgitation)
Colonic diverticula
Aortic root dilatation

Question 5

complication of PKD

Answer 5

Chronic loin pain
Hypertension
Cardiovascular disease
Gross haematuria can occur with cyst rupture (this usually resolves within a few days
Renal stones are more common in patients with PKD
End-stage renal failure occurs at a mean age of 50 years

Question 6

AR type features

Answer 6

oligohydramnios in pregnancy (fetus does not produce enough urine)

features- underdevelopment of lungs which results in respiratory failure after birth. pt may need dialysis for first few days of life

+ dysmorphic features e.g underdeveloped ear cartilage, low set ears, flat nasal bridge, end-stage renal failure before reaching adulthood

Question 7

how to manage PKD

Answer 7

• tolvaptan (vasopressin receptor antagonist)
  this can slow down development of cyst and progression of renal failure in AD PKD
• anti hypertensives
• analgesia for renal colic stones/cyst
• antibiotics for infection and drainage
• dialysis for end stage renal failure
• renal transplant for end-stage renal failure

Question 8

additional management for PKD

Answer 8

Genetic counselling
Avoid contact sports due to the risk of cyst rupture
Avoid anti-inflammatory medications and anticoagulants
Regular ultrasound to monitor the cysts
Regular bloods to monitor renal function
Regular blood pressure to monitor for hypertension
MR angiogram can be used to diagnose intracranial aneurysms in symptomatic patients or those with a family history