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Virtually all renal cystic illnesses are monogenic diseases (Table 470-1). A recent unifying theory of their pathophysiology suggests that all gene products (“cystoproteins”) that are mutated in cystic kidney diseases are expressed in primary cilia, basal bodies, or centrosomes.1-4 Primary cilia are antennalike cellular organelles produced by virtually every epithelial cell type in the body. The structure and function of primary cilia and basal bodies is delineated in eFig. 470.1.5,6 They are important for perceiving extracellular cues, including photosensation, mechanosensation, osmosensation, and olfactory sensation. Cilia are assembled from basal bodies, which represent one of the two centrosomes. Centrosomes and basal bodies contain the same protein complexes that are part of the mitotic spindle in mitosis. These protein complexes are crucial for planar cell polarity, or the orientation of epithelial cells in three-dimensional space. Disruption of their function leads to cyst development and to extrarenal defects that have been summarized under the term ciliopathies. In general, it seems that the pathogenesis of ciliopathies is based on an inability of epithelial cells to sense or process extracellular cues.7

Table 470-1. Cystic Renal Disorders
eFigure 470.1.

Subcellular localization of nephrocystins (light blue) to subcellular organelles of the cilia/centrosome complex (light pink), specifically to primary cilia, basal bodies, the mitotic spindle, focal adhesions and adherens junctions, and functional interaction with other proteins mutated in renal cystic diseases (“ciliopathies”). Cystoproteins are proteins of genes mutated in cystic kidney diseases. Depending on cell cycle stage, cystoproteins are localized at different subcellular organelles (shown in light gray),16,17 including primary cilia, basal bodies, endoplasmic reticulum, the mitotic spindle, centrosomes, adherens junctions, or focal adhesions. Arrows in ...

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