American Journal of Kidney Diseases
Volume 52, Issue 6 , Pages 1042-1050 , December 2008

Presence of De Novo Mutations in Autosomal Dominant Polycystic Kidney Disease Patients Without Family History

  • Berenice Reed, PhD

      Affiliations

    • Department of Medicine, Division of Renal Diseases and Hypertension, University of Colorado Denver and Health Sciences Center, Aurora, CO
    • Corresponding Author InformationAddress correspondence to Berenice Reed, PhD, Polycystic Kidney Disease Research Group, University of Colorado Denver, MS C283, Bldg 500, Rm C5000, 13001 E 17th Pl, PO Box 6508, Aurora, CO 8004
    • ,
  • Kim McFann, PhD

      Affiliations

    • Department of Preventative Medicine and Biometrics, University of Colorado Denver and Health Sciences Center, Denver, CO
    • ,
  • William J. Kimberling, PhD

      Affiliations

    • Boys Town National Research Hospital and Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE
    • ,
  • York Pei, MD

      Affiliations

    • Division of Nephrology, University Health Network, University of Toronto, Toronto, Ontario, Canada
    • ,
  • Patricia A. Gabow, MD

      Affiliations

    • Denver Health Medical Center, Denver, CO
    • ,
  • Karen Christopher

      Affiliations

    • Department of Medicine, Division of Renal Diseases and Hypertension, University of Colorado Denver and Health Sciences Center, Aurora, CO
    • ,
  • Eric Petersen

      Affiliations

    • Department of Medicine, Division of Renal Diseases and Hypertension, University of Colorado Denver and Health Sciences Center, Aurora, CO
    • ,
  • Catherine Kelleher, MD

      Affiliations

    • Department of Medicine, Division of Renal Diseases and Hypertension, University of Colorado Denver and Health Sciences Center, Aurora, CO
    • ,
  • Pamela R. Fain, PhD

      Affiliations

    • Barbara Davis Center for Juvenile Diabetes, American Indian and Alaska Native Program at the University of Colorado at Denver and Health Science Center, Aurora, CO
    • ,
  • Ann Johnson, MS

      Affiliations

    • Department of Psychiatry, American Indian and Alaska Native Program at the University of Colorado at Denver and Health Science Center, Aurora, CO
    • ,
  • Robert W. Schrier, MD

      Affiliations

    • Department of Medicine, Division of Renal Diseases and Hypertension, University of Colorado Denver and Health Sciences Center, Aurora, CO

Received 21 December 2007 ,Accepted 22 May 2008.

References 

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  19. Mizoguchi M, Tamura T, Yamaki A, Higashihara E, Shimizu Y. Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family. J Hum Genet. 2001;46:511–517
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  24. Bogdanova N, Dworniczak B, Dragova D, et al. Genetic heterogeneity of polycystic kidney disease in Bulgaria. Hum Genet. 1995;95:645–650
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  27. Heinz-Peer G, Maier A, Elbenberger K, et al. Role of magnetic resonance imaging in renal transplant recipients with acquired cystic diseases. Urology. 1998;51:534–538
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  30. Perrichot RA, Mercier B, de Parscau L, Simon PM, Cledes J, Ferec C. Inheritance of a stable mutation in a family with early-onset disease. Nephron. 2001;87:340–345
  31. Reed BY, McFann K, Bekheirnia MR, et al. Variation in age at end-stage renal disease in autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008;51:173–183

 Originally published online as doi:10.1053/j.ajkd.2008.05.015 on July 18, 2008.

PII: S0272-6386(08)00949-9

doi: 10.1053/j.ajkd.2008.05.015

American Journal of Kidney Diseases
Volume 52, Issue 6 , Pages 1042-1050 , December 2008

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