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Annu Rev Pathol. 2007;2:341-68.

Cystic disease of the kidney.

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Division of Nephrology, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA.


This review focuses on the mechanisms that underlie the development of human renal cystic diseases. A pathological, clinical, and pathophysiological overview is given. Initial analysis of the cell biology of inappropriate hyperproliferation accompanied by fluid secretion of cyst-lining epithelia has been followed by the elucidation of fundamental defects in epithelial polarity, cell-matrix and cell-cell interactions, and apoptosis, all of which are discussed. Identification of the genes and proteins responsible for several renal cystic diseases has led to a more complete understanding of defects in renal developmental programming, differentiation, and morphogenesis, all of which underlie cystic diseases of the kidney.

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