Polycystic kidney disease

Autosomal dominant polycystic kidney disease 

Incidence 1 in 1000

2 types exist: 
  • Type 1 
    • mutation in PKD1 on chromosome 16 
    • 85% of cases
    • more severe disease – earlier end stage renal failure
  • Type 2 
    • mutation in PKD2 on chromosome 4

  • Flank/back pain 
  • Haematuria 
  • UTI 
  • Abdominal mass 
  • Hypertension (75%) 

Note that autosomal dominant polycystic kidney disease is a systemic disease: 
  • Cysts may also be found in: 
    • Liver (75% of patients) 
    • Pancreas 
    • Ovaries
    • Choroid plexus
  • Other associated complications include 

Autosomal recessive polycystic kidney disease

  • Incidence 1 in 6000 - 40000 
  • Inherited on chromosome 6 
  • Up to 30% die by the neotnatal period
  • End stage renal failure occurs in a third in childhood
  • Associated with congenital hepatic fibrosis 

Other genetic diseases causing renal cysts include: 

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