Polycystic Kidney Disease

football-vs-pkd1

  • Autosomal dominant polycystic kidney disease is an inherited systemic disorder with major renal abnormalities
  • It affects 300,000 to 600,000 Americans of both sexes and without racial predilection
  • Each child of an affected parent has 50% chance of inheriting the gene (PKD1 and PKD2) and penetrance is complete, 5% of cases are due to spontaneous mutation
  • Liver cysts develop in more than 80% of patients, usually larger in women
  • HTN occurs in childhood and affects nearly all patients with renal insufficiency
  • Gross and microscopic hematuria are present in 60% of cases
  • Renal cyst infections and pyleo are common problems for these patients
  • Renal failure requiring RRT occurs in 50%, usually 4th to 6th decade of life
  • Brain aneurysms occur in 8% and a family history increases this risk – screening however is only recommended for those with family hx of aneurysm or stroke or known cyts with new onset or severe HA or other CNS sx
  • There are currently no treatments that have been shown in RCT to slow the formation of the cysts or disease progression
  • Treatment is focused on BP control (<130/80), avoiding contact sports, monitoring for progression of renal insufficiency and managing any complications