Polycystic Kidney Disease, Autosomal Dominant Type


Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of polycystic kidney disease with an estimated incidence of approximately 1/400 to 1/1000 individuals worldwide. It roughly accounts for 10% of patients with chronic renal failure requiring hemodialysis or transplantation.


Autosomal Dominant Polycystic Kidney Disease Polycystic Kidney Disease Renal Cyst Liver Cyst Autosomal Recessive Polycystic Kidney Disease 
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  1. 1.
    Ariza M, Alvarez V, Marin R, et al.: A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. J Med Genet 34:587–589, 1997.PubMedCrossRefGoogle Scholar
  2. 2.
    Arnaout MA: Molecular genetics and pathogenesis of autosomal dominant polycystic kidney disease. Annu Rev Med 52:93–123, 2001.CrossRefPubMedGoogle Scholar
  3. 3.
    Bear JC, McManamon P, Morgan J, et al.: Age at clinical onset and at ultrasonographic diction of adult polycystic kidney disease: Data for genetic counselling. Am J Med Genet 18:45–53, 1984.CrossRefPubMedGoogle Scholar
  4. 4.
    Chauvear D, Fakhouri F, Grünfeld J-P: Liver involvement in autosomal-dominant polycystic kidney disease: therapeutic dilemma. J Am Soc Nephrol 11:1767–1775, 2000.Google Scholar
  5. 5.
    Chen M-F: Surgery for adult polycystic liver disease. J Gastroenterol Hepatol 15:1239–1242, 2000.CrossRefPubMedGoogle Scholar
  6. 6.
    Daoust MC, Reynolds DM, Biche TDG, et al.: Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25:733–736, 1995.CrossRefPubMedGoogle Scholar
  7. 7.
    Edwards OP, Baldinger S: Prenatal onset of autosomal dominant polycystic kidney disease. Urology 34:265–270, 1989.CrossRefPubMedGoogle Scholar
  8. 8.
    Fick GM, Gabow PA: Natural history of autosomal dominant polycystic kidney disease. Annu Rev Med 45:23–29, 1994.CrossRefPubMedGoogle Scholar
  9. 9.
    Fick GM, Johnson AM, Strain JD, et al.: Characteristics of very early onset autosomal dominant polycystic kidney disease. J Am Soc Nephrol 3:1863–1870, 1993.PubMedGoogle Scholar
  10. 10.
    Fick GM, Duley IT, Johnson AM, et al.: The spectrum of autosomal dominant polycystic kidney disease in children. J Am Soc Nephrol 4:1654–1660, 1994.PubMedGoogle Scholar
  11. 11.
    Fick-Brosnahan GM, Tran ZV, Johnson AM, et al.: Progression of autosomaldominant polycystic kidney disease in children. Kidney Int 59:1654–1662, 2001.CrossRefPubMedGoogle Scholar
  12. 12.
    Gabow PA, Johnson AM, Kaehny WD, et al.: Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int 41:1311–1319, 1992.CrossRefPubMedGoogle Scholar
  13. 13.
    Grantham JJ: The etiology, pathogenesis, and treatment of autosomal dominant polycystic kidney disease: recent advances. Am J Kidney Dis 28:788–803, 1996.PubMedGoogle Scholar
  14. 14.
    Gupta S, Seith A, Dhiman RK, et al.: CT of liver cysts in patients with autosomal dominant polycystic kidney disease. Acta Radiologica 40:444–448, 1999.PubMedCrossRefGoogle Scholar
  15. 15.
    Hateboer N, Lazarou LP, Williams AJ, et al.: Familial phenotype differences in PKD1. Kidney Int 56:34–40, 1999.CrossRefPubMedGoogle Scholar
  16. 16.
    Hateboer N, van Dijk MA, Bogdanova N, et al.: Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 353:103–107, 1999.CrossRefPubMedGoogle Scholar
  17. 17.
    Hemal AK: Laparoscopic management of renal cystic disease. Urol Clin N Amer 28:115–126, 2001.Google Scholar
  18. 18.
    Harris PC, Torres VE: Autosomal dominant polycystic kidney disease. Gene Reviews, 2002.
  19. 19.
    Kimberling WJ, Kumar S, Gabow PA, et al.: Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13–q23. Genomics 18:467–472, 1993.PubMedGoogle Scholar
  20. 20.
    McDonald RA, Avner ED: Inherited polycystic kidney disease in children. Semin Nephrol 11:632–642, 1991.PubMedGoogle Scholar
  21. 21.
    Pei Y, Paterson AD, Wang KR, et al.: Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am J Hum Genet 68:355–363, 2001.CrossRefPubMedGoogle Scholar
  22. 22.
    Perrone RD: Extrarenal manifestations of ADPKD. Kidney Int 51:2022–2036, 1997.CrossRefPubMedGoogle Scholar
  23. 23.
    Pirson Y, Chauveau D, Torres V: Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 13:269–276, 2002.PubMedGoogle Scholar
  24. 24.
    Rossetti S, Strmecki L, Gamble V, et al.: Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet 68:46–63, 2001.CrossRefPubMedGoogle Scholar
  25. 25.
    Rossetti S, Burton S, Strmecki L, et al.: The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with severity of renal disease. J Am Soc Nephrol 13:1230–1237, 2002.CrossRefPubMedGoogle Scholar
  26. 26.
    Rossetti S, Chauveau D, Walker D, et al.: A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int 61:1588–1599, 2002.CrossRefPubMedGoogle Scholar
  27. 27.
    Torres VE, Wilson DM, Hattery RR, et al.: Renal stone disease in autosomal dominant polycystic kidney disease. Am J Kidney Dis 22:513–519, 1993.PubMedGoogle Scholar
  28. 28.
    Wilson PD: Polycystic kidney disease. N Engl J Med 350:151–164, 2004.CrossRefPubMedGoogle Scholar

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© Humana Press Inc. 2006

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