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Cyst formation at the level of the cell, nephron, and kidney. Defects in the genes encoding PC1 or PC2 lead to aberrant gene transcription, cell proliferation, and ion secretion, which in turn result in the formation of fluid-filled cysts. As cysts balloon out from individual nephrons, their collective effect leads to the displacement of the normal renal parenchyma and the formation of a cyst-filled kidney with reduced functional capacity.
