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Polycystic Kidney Disease: From Bench to Bedside
APS Renal Section
Arlene B. Chapman
R. Sanford, W. Guggino, J. Zhou and S. Somlo
Significant advances have been
made with regard to the understanding of the molecular mechanisms
responsible for the development of epithelial cyst formation in polycystic
kidney disease. These discoveries have been through the efforts of
investigators from a variety of backgrounds requiring multidisciplinary
approaches to the investigation of the functions of the PKD1 and
PKD2 gene protein products and the understanding of pathogenic
pathways in renal cystic disorders. In this forum we will review the
clinical feature of polycystic kidney disease, the location, function,
trafficking, and signaling of polycystin 1 and 2, the protein products of
the PKD1 and PKD2 genes. Evidence for regulation by
the polycystins of ion channels, calcium and G protein signaling will be
discussed. The importance of epithelial ciliary abnormalities in polycystic
disorders and their potential primary role for cyst formation will be
reviewed. The use of PKD1 and PKD2 genetically
engineered animal models to understand disease mechanisms and polycystin
function will be presented.
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