title: A mechanistic approach to inherited polycystic kidney disease.
abstract: There are approximately six and a half million people, of the estimated world population of six billion, with inherited polycystic kidney disease. Polycystic kidney diseases have a broad spectrum of associated findings that distinguish and define them as specific disease states. The dysregulation of renal tubular epithelial cell biology, including cell polarity, cell signaling, proliferation and apoptosis, basement membrane and matrix abnormalities, and fluid transport, has been postulated to contribute to cystogenesis. Evidence is currently accumulating that supports an association of the primary cilium and basal body, as well as the focal adhesion assembly, with polycystic kidney diseases. Renal cystogenesis may be the result of a disruption of a critical feedback loop that regulates tissue morphology based on the epithelial cell environment.
authors.affiliation: Division of Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA. john.bissler@cchmc.org
authors.forename: John J
authors.initials: JJ
authors.lastname: Bissler
authors.forename: Bradley P
authors.initials: BP
authors.lastname: Dixon
mesh_terms: D002648:Child; D006801:Humans; D007668:Kidney / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology*; D007690:Polycystic Kidney Diseases / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology*
references.citation: Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3
references.pmid: 5279523
references.citation: J Med Genet. 1996 Jun;33(6):480-4
references.pmid: 8782048
references.citation: Nat Genet. 1998 Oct;20(2):149-56
references.pmid: 9771707
references.citation: Am J Physiol Renal Physiol. 2003 Dec;285(6):F1034-49
references.pmid: 14600027
references.citation: Cell. 1996 Dec 13;87(6):979-87
references.pmid: 8978603
references.citation: Nat Genet. 1994 Jul;7(3):429-32
references.pmid: 7920664
references.citation: J Clin Invest. 1999 Nov;104(10):1459-68
references.pmid: 10562308
references.citation: Kidney Int. 1999 Aug;56(2):406-13
references.pmid: 10432378
references.citation: Curr Opin Nephrol Hypertens. 2003 Sep;12(5):517-20
references.pmid: 12920399
references.citation: Science. 1987 Sep 18;237(4821):1479-84
references.pmid: 3498215
references.citation: Am J Hum Genet. 2002 May;70(5):1305-17
references.pmid: 11898128
references.citation: Science. 2001 Sep 21;293(5538):2213-4
references.pmid: 11567125
references.citation: Cell. 2002 Apr 19;109 (2):157-68
references.pmid: 12007403
references.citation: Am J Physiol. 1991 Mar;260(3 Pt 2):F420-30
references.pmid: 1848046
references.citation: Science. 1994 May 27;264(5163):1329-33
references.pmid: 8191288
references.citation: Clin Genet. 1988 Feb;33(2):78-82
references.pmid: 3359670
references.citation: J Am Soc Nephrol. 2002 Oct;13(10):2508-16
references.pmid: 12239239
references.citation: Nat Genet. 2003 Feb;33(2):129-37
references.pmid: 12514735
references.citation: Am J Hum Genet. 2002 Nov;71(5):1161-7
references.pmid: 12205563
references.citation: Pflugers Arch. 2002 Sep;444(6):722-31
references.pmid: 12355171
references.citation: Nat Genet. 2000 Jan;24(1):75-8
references.pmid: 10615132
references.citation: Nat Med. 2004 Apr;10(4):363-4
references.pmid: 14991049
references.citation: J Membr Biol. 2003 Feb 1;191(3):193-200
references.pmid: 12571753
references.citation: Am J Hum Genet. 2001 Feb;68(2):355-63
references.pmid: 11156533
references.citation: Hum Mol Genet. 2003 Oct 15;12(20):2703-10
references.pmid: 12925574
references.citation: J Am Soc Nephrol. 2004 Mar;15(3):592-602
references.pmid: 14978161
references.citation: Nature. 1995 Oct 12;377(6549):539-44
references.pmid: 7566154
references.citation: Am J Physiol. 1999 Sep;277(3 Pt 2):F391-403
references.pmid: 10484523
references.citation: Am J Med Genet. 1998 Mar 5;76(2):137-44
references.pmid: 9511976
references.citation: Science. 2001 Sep 21;293(5538):2256-9
references.pmid: 11567139
references.citation: Kidney Int. 2000 Jan;57(1):33-40
references.pmid: 10620185
references.citation: J Clin Invest. 1997 Jan 15;99(2):194-9
references.pmid: 9005987
references.citation: Science. 1987 Apr 3;236(4797):83-8
references.pmid: 3453112
references.citation: Am J Hum Genet. 1997 Oct;61(4):843-51
references.pmid: 9382094
references.citation: Hum Mol Genet. 1996 Mar;5(3):367-71
references.pmid: 8852662
references.citation: Nature. 1998 Sep 10;395(6698):177-81
references.pmid: 9744276
references.citation: Am J Physiol Renal Physiol. 2004 Feb;286(2):F244-54
references.pmid: 14559716
references.citation: Kidney Int. 1999 Jan;55(1):168-78
references.pmid: 9893125
references.citation: Lab Invest. 1999 Oct;79(10):1311-23
references.pmid: 10532593
references.citation: J Med Genet. 1995 Jun;32(6):442-5
references.pmid: 7666395
references.citation: J Am Soc Nephrol. 2003 Jul;14(7):1804-15
references.pmid: 12819240
references.citation: Nat Genet. 1994 Dec;8(4):328-32
references.pmid: 7894481
references.citation: Mod Pathol. 1988 Nov;1(6):457-63
references.pmid: 3065782
references.citation: Nat Med. 2003 Oct;9(10):1323-6
references.pmid: 14502283
references.citation: J Cell Biol. 2000 Apr 3;149(1):111-24
references.pmid: 10747091
references.citation: Pathobiology. 1995;63(4):222-38
references.pmid: 8866794
references.citation: J Med Genet. 2002 Dec;39(12):882-92
references.pmid: 12471200
references.citation: Nature. 2003 Oct 9;425(6958):628-33
references.pmid: 14520415
references.citation: Nat Genet. 2002 Mar;30(3):259-69
references.pmid: 11919560
references.citation: Biochim Biophys Acta. 2000 Dec 15;1535(1):21-35
references.pmid: 11113628
references.citation: J Membr Biol. 2003 Jan 1;191(1):69-76
references.pmid: 12532278