23. Polycystic Kidney Disease

Question 1

what is polycystic kidney disease (PKD)

Answer 1

genetic condition where the kidneys develop multiple fluid-filled cysts. Kidney function is also significantly impaired.
the cysts arise from the renal tubules

Question 2

which is the more common type of PKD

autosomal dominant or autosomal recessive

Answer 2

autosomal dominant type

Question 3

how do you diagnose PKD

Answer 3

ultrasound scan and genetic testing

Question 4

what are the pain autosomal dominant genes and what chromosome are they on

Answer 4

• PKD-1: chromosome 16 (85% of cases)

* PKD-2: chromosome 4 (15% of cases)

Question 5

what extra renal manifestations can you get with PKD

Answer 5

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

Question 6

what are the main complications with PKD

Answer 6

• 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 7

autosomal receive PKD is rarer and more severe

when does it often present and how

Answer 7

presents in pregnancy with oligohydramnios as the fetus does not produce enough urine.

Question 8

what is the management of PKD to slow the development of cysts

Answer 8

Tolvaptan (a vasopressin receptor antagonist

Question 9

What are the other management options of PKD that are mainly supportive of the complications

Answer 9

• Antihypertensives for hypertension.
• Analgesia for renal colic related to stones or cysts.
• Antibiotics for infection. Drainage of infected cysts may be required.
• Dialysis for end-stage renal failure.
• Renal transplant for end-stage renal failure.

Question 10

what advice can you give people who have PKD

Answer 10

• 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

Question 11

what is the diagnostic criteria called for diagnosing PKD

Answer 11

modified ravines criteria

Question 12

there are a lot of genetic causes of cystic renal disease , name some of them

Answer 12

see notes

Question 13

what is the most common cause of renal failure due to a cystic renal disease

Answer 13

ADPKD accounts for 10% of the dialysis population

Question 14

name some extra renal complications of ADPKD

Answer 14

• Extrarenal (berry aneurysms, liver, pancreas, spleen cysts, mitral valve prolapse,? diverticuli)

Question 15

why are people with PKD monitored from a young age

Answer 15

there is a high mortality secondary to CVD so BP control from childhood is essential