Condition- Polycystic Kidney Disease

Question 1

What is polycystic kidney disease?

Answer 1

Autosomal dominant condition characterised by the replacement of normal kidney tissue with renal cysts

Question 2

Describe the inheritance of polycystic kidney disease

Answer 2

Autosomal dominant

Question 3

Which two genes are implicated in the development of Polycystic kidney disease?

Answer 3

PKD1- produces polycystin 1 (Chr 16)

PKD2- produces polycystin 2 (Chr 4)

Question 4

Which out of a mutation in PKD1 and PKD2 causes a more rapid progression of polycystic kidney disease?

Answer 4

PKD1 = faster progression

Question 5

List some extra-renal manifestations of a PKD mutation

Answer 5

• liver cysts
• intra-cranial aneurysms => SAH
• mitral valve prolapse
• Ovarian cysts
• diverticular disease

Question 6

List some symtpoms experienced by patients with polycystic kidney disease

Answer 6

• FHx
• Flank pain- cyst enlargement/ bleeding, stone, clot, infection
• Haematuria
• Hypertension
• Extra-renal manifestations- infertility, headaches, difficulty breathing

Question 7

List some signs of PKD on physical examination

Answer 7

• Peripheral:
  
  • Hypertension
• Thorax:
  
  • Heart murmurs from mitral prolapse
• Abdo:
  
  • I: Abdo distension
  • P: palpable liver, balottable kidneys, AAA (expansile abdo aorta)

Question 8

What is the first line investigation for someone with suspected polycystic kidney disease?

Answer 8

ULTRASOUND

Question 9

What is the ultrasound diagnostic criteria for polycystic kidney disease

Answer 9

• two cysts, unilateral or bilateral, if aged < 30 years
• two cysts in both kidneys if aged 30-59 years
• four cysts in both kidneys if aged > 60 years

Question 10

Which investigations other than a renal ultrasound should you conduct on someone with PKD

Answer 10

• ECG- mitral prolapse
• CT- for liver cysts
• MRI Head- for SAH
• (genetic testing)