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

Presentation: 

• 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 
• Aortic aneurysm
• Mitral valve prolapse and MR 
• Aortic regurgitation 
• Subarachnoid haemorrhage
  

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: 

• Von Hippel-Lindau 
• Tuberous sclerosis
• Zellweger syndrome 

References

Harris, P. and Torres, V. Polycystic kidney disease. Annu Rev Med. 2009; 60: 321-337. 

Igarasfi, P. and Somio, S. Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol. 2002; 13(9): 2384-2398.