Polycystic kidney disease is a genetic condition where the kidneys develop multiple fluid-filled cysts. Kidney function is also significantly impaired.

Autosomal dominant type is more common than the autosomal recessive type

ADPKD type does not present until adulthood, ARPKD presents in childhood

Features

• hypertension
• recurrent UTIs
• abdominal pain
• Flank pain and haematuria is the classic presentation of a cyst rupture
• Cyst infection - flank pain, fever, urinary symptoms

Investigations

• The imaging investigation of choice is an ultrasound scan
  • 15-39 years: >3 renal cysts, 40 - 59 years: >2 renal cysts bilaterally, >60 year: >4 renal cysts bilaterally
• CT and MRI can be used to determine the extent of cystic disease
• Genetic testing might be considered in atypical cases

Management

• Tolvaptan - slows formation of cysts and decline in kidney function
• Treatment of HTN
• Supportive management of CKD