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Aberrant Cellular Pathways in PKD

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Polycystic Kidney Disease

Abstract

Cystic kidney diseases are a heterogeneous group of genetic, developmental, and acquired disorders characterized by dilated or cystic tubular segments caused by dysregulation of tubular morphology. Several pathologic hallmarks have been identified to explain the abnormal cellular phenotypes associated with cystic epithelium. These include enhanced proliferation, increased apoptosis, remodeling of the extracellular matrix, a secretory phenotype, dysregulated metabolism, and an inability to maintain planar cell polarity. Extensive work over the last few decades has identified many of the genes responsible for inherited forms of cystic kidney disease. This has provided an entry into the identification of cystogenic pathways that underlie the pathologic hallmarks that have been described. In this review, we discuss our current understanding of some of the key signaling pathways that are disrupted in the most common form of renal cystic disease, autosomal dominant polycystic kidney disease (ADPKD).

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Authors and Affiliations

  1. Department of Medicine, Division of Nephrology, University of Maryland School of Medicine, Baltimore, MD, USA

    Alison Grazioli MD, Patricia Outeda PhD & Terry Watnick MD

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  1. Alison Grazioli MD
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  2. Patricia Outeda PhD
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  3. Terry Watnick MD
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  1. John Gammill Professor in Polycystic Kidney Disease, Chief, Section of Nephrology and Hypertension, Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

    Benjamin D. Cowley, Jr.

  2. Federal Express Chair of Excellence, Chief, Division of Nephrology, Department of Pediatrics, Director, Tuberous Sclerosis Center of Excellence at Le Bonheur Children’s Hospital, Medical Director, Nephrology St. Jude Children’s Research Hospital, University of Tennessee Health Science Center, Children’s Foundation Research Center, Memphis, Tennessee, USA

    John J. Bissler

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Grazioli, A., Outeda, P., Watnick, T. (2018). Aberrant Cellular Pathways in PKD. In: Cowley, Jr., B., Bissler, J. (eds) Polycystic Kidney Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-7784-0_4

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