Polycystic Kidney Disease

Polycystic Kidney Disease (PKD) refers to a range of genetic diseases which are a common cause of kidney failure in children and adults.

There are 2 main forms of PKD:

  • Autosomal Dominant Polycystic Kidney Disease (ADPKD)
  • Autosomal Recessive Polycystic Kidney Disease (ARPKD)

What is ADPKD?ADPKD kidney compared with normal kidney

  • The world’s most common inherited life-threatening condition
  • The most common inherited kidney disease
  • Characterised by fluid-filled cysts which develop, enlarge and multiply in both kidneys causing progressive renal failure
  • Multi-system condition, affecting other organs, such as the liver, pancreas, spleen, brain, intestines
  • Prevalence: between 1 in 500 and 1 in 1000 – approx 12.5 million worldwide, 70,000+ in UK
  • Men and women equally affected with no apparent racial bias
  • Two genes: PKD1 and PKD2 with differing outcomes
  • Typical age of onset: 30s to 50s
  • Results in end stage renal failure in 50% of patients
  • Accounts for 8-10% of patients on RRT (renal replacement therapy)
  • Currently incurable

What is ARPKD?

  • Rare form of PKD
  • Incidence: 1 in 20,000 live births
  • In utero: sometimes fatal; babies have enlarged kidneys and little amniotic fluid; there is failure of the lungs to fully develop; and there may be deformities of spine and limbs
  • In newborn: 30%-50% die at birth or shortly thereafter; ~40% of survivors have respiratory failure needing ventilation
  • 12% of ARPKD children develop chronic lung disease
  • Some may require a nephrectomy
  • Children usually have hypertension and problems with salt and water balance
  • Kidney function is usually poor; infections are common
  • Kidney failure often happens by age 30
  • Liver abnormalities are common, primarily Congenital Hepatic Fibrosis

Find out more about PKD

NCBI/NIH/PubMed references

Useful links

PKD Charity UK