polycystic kidney disease

Question 1

definition

Answer 1

Autosomal dominant inherited disorder characterized by the development of multiple renal cysts that gradually expand and replace normal kidney substance, variably associated with extrarenal (liver and cardiovascular) abnormalities.

(there is also the autosomal recessive form, which is a less common.)

Question 2

epidemiology

Answer 2

Most commonly inherited kidney disorder affecting one in 800, respon- sible for nearly 10% of end-stage renal failure in adults.

Question 3

history/symptoms

Answer 3

usually present at 30-40 y/o, symptoms usually only start when the cysts become very big and affect renal function or cause haemorrhage.
may even be asymptomatic.

• loin pain
• haematuria
• hypertension
• Associated with intracranial ‘berry’ aneurysms and may present with subarachnoid haemorrhage: sudden onset headache.
• UTI (UTI involving cysts typically involve fever)

extra renal presentations:

• liver cysts
• ovarian cysts
• mitral valve prolapse
• diverticular disease
• abdominal hernia

Question 4

signs/examination

Answer 4

• Abdominal distension
• enlarged cystic kidneys and liver palpable
• hypertension.
• Signs of chronic renal failure at late stage.
• Signs of associated aortic aneurysm or aortic valve disease.

Question 5

risk factors

Answer 5

family history

Question 6

investigations

Answer 6

1st investigations:

• renal USS (most important for diagnosis!)
• CT, MRI abdo/pelvis
• urinalysis/gram stain and urine culture
• U&E, creatinine
• fasting lipid profile
• ECG
• CT brain