Polycystic kidney disease: New understanding in the pathogenesis

Patricia D. Wilson

Research output: Contribution to journalShort surveypeer-review

107 Scopus citations

Abstract

Polycystic kidney disease (PKD) is a disease of the nephron, characterized by the formation of multiple renal tubular cysts, leading to endstage renal failure. The most common form is autosomal dominant PKD (ADPKD) and is caused by mutations in the PKD1 gene in 85% of cases or in PKD2 in 10-15%. Rarer forms include autosomal recessive PKD (ARPKD) and nephronophthisis with high mortality and morbidity in children. Recent advances suggest that the PKD1-encoded protein, polycystin-1, is a renal epithelial cell membrane mechanoreceptor, sensing morphogenetic cues in the extracellular environment at the basal surface in focal adhesion complexes; at the lateral surface in cell adherens junctions; and in the lumen at the apical primary cilium. Activation via multiprotein complex formation, intracellular signal transduction cascades and regulation of fetal gene transcription leads to appropriate renal tubule epithelial cell division and differentiation in normal kidneys, but is disrupted in PKD resulting in cyst formation.

Original languageEnglish
Pages (from-to)1868-1873
Number of pages6
JournalInternational Journal of Biochemistry and Cell Biology
Volume36
Issue number10
DOIs
StatePublished - Oct 2004

Keywords

  • Cell-cell adhesion
  • Differentiation
  • Extracellular matrix
  • Focal adhesions
  • Membrane receptor
  • Morphogenesis
  • Multiprotein complex
  • Renal development
  • Signal transduction

Fingerprint

Dive into the research topics of 'Polycystic kidney disease: New understanding in the pathogenesis'. Together they form a unique fingerprint.

Cite this