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Virtually all renal cystic illnesses are monogenic diseases (Table 466-1). A recent unifying theory of their pathophysiology suggests that all gene products (“cystoproteins”) that are mutated in cystic kidney diseases localize to primary cilia, basal bodies, or centrosomes. Primary cilia are antenna-like cellular organelles produced by virtually every cell type in the body. They are important for perceiving extracellular cues, including photosensation, mechanosensation, osmosensation, and olfactory sensation. Cilia are assembled from basal bodies, which represent 1 of the 2 centrosomes. Centrosomes and basal bodies contain some of 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 3-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.



Cystic disorders of the kidney are among the most common causes for end-stage kidney disease (ESKD) in children. Since most renal cystic diseases are monogenic disorders, pedigree analysis to determine the pattern of inheritance should be emphasized when obtaining the history. In autosomal dominant diseases, a genetic defect in only 1 of the 2 alleles of the disease gene leads to the disease phenotype. Typically, there are affected individuals in more than 1 generation. Father-to-son transmission may be present (as opposed to X-linked diseases), and the disease course is usually milder and has later onset than in recessive variants of the disease. In ...

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