Seminars in Nephrology
Volume 30, Issue 4 , Pages 356-365 , July 2010

Diagnosis of Autosomal-Dominant Polycystic Kidney Disease: An Integrated Approach

  • Moumita Barua, MD, FRCPC
    • ,
  • York Pei, MD, FRCPC, FACP, FASN

      Affiliations

    • Corresponding Author InformationAddress reprint requests to York Pei, MD, FRCPC, FASN, Divisions of Nephrology and Genomic Medicine, University of Toronto, 8N838, 585 University Ave, Toronto, Ontario, Canada M5G 2N2

References 

  1. Gabow P. Autosomal dominant polycystic kidney disease. N Engl J Med. 1993;329:332–342
  2. Grantham J, Winklhofer F. Brenner and Rector's the kidney. 7th ed.. Philadelphia: Elsevier Saunders; 2004;
  3. Iglesias C, Torres V, Offord K, Holley K, Beard C, Kurland L. Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935-1980. Am J Kidney Dis. 1983;2:630–639
  4. Davies F, Coles G, Harper P, Williams A, Evans C, Cochlin D. Polycystic kidney disease re-evaluated: a population-based study. QJM. 1991;79:477–485
  5. US Renal Data System. Excerpts from the USRDS 2004 annual data report. Am J Kidney Dis. 2005;45(Suppl):S1–S280
  6. Peters D, Sandkkuijl L. Genetic heterogeneity of polycystic kidney disease in Europe. Contrib Nephrol. 1992;97:128–139
  7. Dobin A, Kimberling W, Pettinger W, Bailey-Wilson JE, Shugart YY, Gabow P. Segregation analysis of autosomal dominant polycystic kidney disease. Genet Epidemiol. 1993;10:189–200
  8. Rossetti S, Adeva M, Kubly V, Consugar MB, Torres VE, Harris PC. An Olmsted County population-based study indicates that PKD2 is more common than previously described. ASN abstract. 2007;18:SA-PO93
  9. Barua M, Cil O, Paterson AD, Wang K, He N, Dicks E, et al. Family history of renal disease severity predicts the mutated gene in ADPKD. J Am Soc Nephrol. 2009;20:1833–1838
  10. Hateboer N, v Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2 (European PKD1-PKD2 Study Group). Lancet. 1999;353:103–107
  11. Magistroni R, He N, Wang KR, Andrew R, Johnson A, Gabow P, et al. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2003;14:1164–1174
  12. Rossetti S, Burton S, Stremecki L, Pond G, San Millan J, Zerres K, et al. The position of the polycystic kidney disease 1 gene mutation correlates with the severity of renal disease. J Am Soc Nephrol. 2002;13:1230–1237
  13. Paterson AD, Magistroni R, He N, Wang K, Johnson A, Fain PR, et al. Progressive loss of renal function is an age dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2004;16:755–762
  14. Persu A, Duyme M, Pirson Y, Lens XM, Messiaen T, Breuning MH, et al. Comparison between siblings and twins supports a role for modifier genes in ADPKD. Kidney Int. 2004;66:2132–2136
  15. Fain P, McFann K, Taylor M, Tison M, Johnson A, Schrier R. Modifier genes play a significant role in the phenotypic expression of PKD1. Kidney Int. 2005;67:1256–1267
  16. Kottgen M. TRPP2 and autosomal dominant polycystic kidney disease. Biochim Biophys Acta. 2007;1772:836–850
  17. Harris P, Torres V. Polycystic kidney disease. Annu Rev Med. 2009;60:321–337
  18. Ong A, Harris PC. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney Int. 2005;67:1234–1247
  19. Igarashi P, Somlo S. Polycystic kidney disease. J Am Soc Nephrol. 2007;18:1371–1373
  20. Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int. 2009;76:149–168
  21. Zhou J. Polycystins and primary cilia: primers for cell cycle progression. Annu Rev Physiol. 2009;71:83–113
  22. Pei Y. Diagnosis of autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2006;1:1108–1114
  23. Brook-Carter P, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar M, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease—a contiguous gene syndrome. Nat Genet. 1994;8:328–332
  24. Sampson J, Maheshwar M, Aspinwall R, Thompson P, Cheadle J, Ravine D, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 locus. Am J Hum Genet. 1997;61:843–851
  25. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, et al. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet. 1997;17:384–389
  26. Bellanne-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Glauin S, Beaufils S, et al. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med. 2004;140:510–517
  27. Woolf AS, Feather SA, Bingham C. Recent insights into kidney diseases associated with glomerular cysts. Pediatr Nephrol. 2002;17:229–235
  28. Ravine D, Gibson R, Donlan J, Sheffield L. An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases. Am J Kidney Dis. 1993;22:803–807
  29. McHugh K, Stringer D, Hebert D, Babiak C. Simple renal cysts in children: diagnosis and follow-up with US. Radiology. 1991;178:383–385
  30. Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet. 1994;343:824–827
  31. Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 2009;20:205–212
  32. Nicolau C, Torra R, Badenas C, Vilana R, Biachi L, Gilabert R, et al. Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis. Radiology. 1999;213:273–276
  33. Bisceglia M, Creti G. AMR series unilateral (localized) renal cystic disease. Adv Anat Pathol. 2005;12:227–232
  34. Fick-Brosnahan G, Johnson AM, Strain JD, Gabow PA. Renal asymmetry in children with autosomal dominant polycystic kidney disease. Am J Kidney Dis. 1999;34:639–645
  35. Slywotzky CM, Bosniak MA. Localized cystic disease of the kidney. AJR Am J Roentgenol. 2001;176:843–850
  36. Fick G, Johnson A, Strain J, Kimberling W, Kumar S, Manco-Johnson M, et al. Characteristics of very early onset autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1993;3:1863–1870
  37. Davies F, Coles G, Harper P, Williams A, Evans C, Cochlin D. Polycystic kidney disease re-evaluated: a population-based study. QJM. 1991;79:477–485
  38. Zhao X, Paterson AD, Zahirieh A, He N, Wang K, Pei Y. Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations. Clin J Am Soc Nephrol. 2008;3:146–152
  39. Rossetti S, Consugar M, Chapman A, Torres V, Guay-Woodford L, Grantham J, et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007;18:2143–2160
  40. Garcia-Gonzalez M, Jones J, Allen S, Palatucci C, Batish S, Seltzer W, et al. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Mol Genet Metabol. 2007;92:160–167
  41. Consugar MB, Wong WC, Lundquist PA, Rossetti S, Kubly VJ, Walker DL, et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int. 2008;74:1468–1479

PII: S0270-9295(10)00094-X

doi: 10.1016/j.semnephrol.2010.06.002

Seminars in Nephrology
Volume 30, Issue 4 , Pages 356-365 , July 2010

Article Tools

* Image Usage & Resolution