A mechanistic approach to inherited polycystic kidney disease

Pediatr Nephrol. 2005 May;20(5):558-66. doi: 10.1007/s00467-004-1665-z. Epub 2005 Feb 18.

Abstract

There are approximately six and a half million people, of the estimated world population of six billion, with inherited polycystic kidney disease. Polycystic kidney diseases have a broad spectrum of associated findings that distinguish and define them as specific disease states. The dysregulation of renal tubular epithelial cell biology, including cell polarity, cell signaling, proliferation and apoptosis, basement membrane and matrix abnormalities, and fluid transport, has been postulated to contribute to cystogenesis. Evidence is currently accumulating that supports an association of the primary cilium and basal body, as well as the focal adhesion assembly, with polycystic kidney diseases. Renal cystogenesis may be the result of a disruption of a critical feedback loop that regulates tissue morphology based on the epithelial cell environment.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Child
  • Humans
  • Kidney / abnormalities
  • Kidney / pathology
  • Kidney / physiopathology*
  • Polycystic Kidney Diseases / etiology
  • Polycystic Kidney Diseases / genetics*
  • Polycystic Kidney Diseases / physiopathology*