Last reviewed 07/2018

The ADPKD1 gene is located on the short arm of chromosome 16 and appears to be causative in more than 90% of families in the white population. It appears to encode an extracellular matrix protein which is expressed around cerebral, renal and hepatic blood vessels.

A second causative gene, ADPKD2, was been identified and localised to chromosome 4.

  • ADPKD is caused by mutations at two genes, PKD1 (16p13.3) and PKD2 (4q21)

  • PKD1 mutations account for approximately 85% and PKD2 mutations for approximately 15% of the cases in clinically well characterized cohorts

  • PKD1 patients reach ESRD approximately 20 years earlier than PKD2 patients (approximately 54 versus 74 years)

  • PKD1 and PKD2 encode polycystin 1 and 2 (PC-1 and PC-2), respectively. PC-1 is a large, transmembrane protein that interacts with PC-2, a transient receptor potential channel that regulates intracellular calcium
    • both proteins localize to the kidney primary cilium, and may act as a flow-dependent mechanosensor regulating the differentiation and proliferation of tubular epithelial cells.