Autosomal Dominant Polycystic Kidney Disease
Although it occurs in one in 400 people, autosomal dominant polycystic kidney disease (ADPKD) is relatively unknown outside of the renal medicine community. Discovery of the polycystin genes that code for ADPKD has revolutionized diagnosis of one of the most common genetic diseases. Back and/or flank pain with hematuria are the usual presenting symptoms, but long-term hypertension is the key objective finding. A timely diagnosis and aggressive treatment of hypertension can slow cyst growth and reduce end-stage organ damage, thus extending the life span of the patient and delaying the need for dialysis or transplantation.
30. Chapman AB, Torres VE, Perrone RD, et al. The HALT polycystic kidney disease trials: design and implementation. Clin J Am Soc Nephrol. 2010;5(1):102-109.
31. Taylor M, Johnson AM, Tison M, et al. Earlier diagnosis of autosomal dominant polycystic kidney disease: importance of family history and implications for cardiovascular and renal complications. Am J Kidney Dis. 2005;46(3):415-423.
32. Namli S, Oflaz H, Turgut F, et al. Improvement of endothelial dysfunction with simvastatin in patients with autosomal dominant polycystic kidney disease. Ren Fail. 2007;29(1):55-59.
33. Bremmer MS, Jacobs SC. Renal artery embolization for the symptomatic treatment of adult polycystic kidney disease. Nat Clin Pract Nephrol. 2008;4(5):236-237.
34. Chapman AB, Rubinstein D, Hughes R, et al. Intracranial aneurysms in autosomal dominant polycystic kidney disease. N Engl J Med. 1992; 327(13):916-920.
35. Schievink WI, Torres VE, Piepgras DG, Wiebers DO. Saccular intracranial aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1992;3(1):88-95.
36. Fick GM, Gabow PA. Hereditary and acquired cystic disease of the kidney. Kidney Int. 1994;46(4):951-964.
37. Watson ML. Complications of polycystic kidney disease. Kidney Int. 1997;51(1):353-365.
38. Huston J 3rd, Torres VE, Sulivan PP, et al. Value of magnetic resonance angiography for the detection of intracranial aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1993;3(12):1871-1877.
39. Longenecker JC, Coresh J, Powe NR, et al. Traditional cardiovascular disease risk factors in dialysis patients compared with the general population: the CHOICE Study. J Am Soc Nephrol. 2002;13(7):1918-1927.
40. Meijer E, Rook M, Tent H, et al. Early renal abnormalities in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2010; 5(6):1091-1098.
41. Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int. 2009;76(2):149-168.
42. Tabibi A, Simforoosh N, Abadpour P, et al. Concomitant nephrectomy of massively enlarged kidneys and renal transplantation in autosomal dominant polycystic kidney disease. Transplant Proc. 2005;37(7):2939-2940.
43. Dunn MD, Portis AJ, Elbahnasy AM, et al. Laparoscopic nephrectomy in patients with end-stage renal disease and autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2000;35(4):720-725.
44. Sulikowski T, Tejchman K, Zietek Z, et al. Experience with autosomal dominant polycystic kidney disease in patients before and after renal transplantation: a 7-year observation. Transplant Proc. 2009;41(1):177-180.
45. Desai MR, Nandkishore SK, Ganpule A, Thimmegowda M. Pretransplant laparoscopic nephrectomy in adult polycystic kidney disease: a single centre experience. BJU Int. 2008;101 (1):94-97.
46. Glassman DT, Nipkow L, Bartlett ST, Jacobs SC. Bilateral nephrectomy with concomitant renal graft transplantation for autosomal dominant polycystic kidney disease. J Urol. 2000;164 (3 pt 1):661-664.
47. Fuller TF, Brennan TV, Feng S, et al. End stage polycystic kidney disease: indications and timing of native nephrectomy relative to kidney transplantation. J Urol. 2005;174(6):2284-2288.
48. Abbott KC, Agodoa LY. Polycystic kidney disease at end-stage renal disease in the United States: patient characteristics and survival. Clin Nephrol. 2002;57(3):208-214.
49. Perrone RD, Ruthazer R, Terrin NC. Survival after end-stage renal disease in autosomal dominant polycystic kidney disease: contribution of extrarenal complications to mortality. Am J Kidney Dis. 2001;38(4):777-784.
50. Batista PB, Lopes AA, Costa FA. Association between attributed cause of end-stage renal disease and risk of death in Brazilian patients receiving renal replacement therapy. Ren Fail. 2005;27(6):651-656.
51. Pirson Y, Christophe JL, Goffin E. Outcome of renal replacement therapy in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 1996;11 suppl 6:24-28.
52. Torres VE, Meijer E, Bae KT, et al. Rationale and design of the TEMPO (Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and its Outcomes) 3-4 Study. Am J Kidney Dis. 2011;57(5):692-699.
53. Calvet JP. Strategies to inhibit cyst formation in ADPKD. Clin J Am Soc Nephrol. 2008;3 (4):1205-1211.
54. Grantham JJ. Lillian Jean Kaplan International Prize for advancement in the understanding of polycystic kidney disease. Understanding polycystic kidney disease: a systems biology approach. Kidney Int. 2003;64(4):1157-1162.
55. Irazabal MV, Torres VE, Hogan MC, et al. Short-term effects of tolvaptan on renal function and volume in patients with Autosomal Dominant Polycystic Kidney Disease. Kidney Int. 2011 May 4 [Epub ahead of print].
56. New York University, sponsor. High Water Intake to Slow Progression of Polycystic Kidney Disease. https://clinicaltrials.gov/ct2/show/NCT00784030. Accessed July 22, 2011.
57. Wang CJ, Creed C, Winklhofer FT, Grantham JJ. Water prescription in autosomal dominant polycystic kidney disease: a pilot study. Clin J Am Soc Nephrol. 2011;6(1):192-197.
58. Grampsas SA, Chandhoke Ps, Fan J, et al. Anatomic and metabolic risk factors for nephrolithiasis in patients with autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2000;36(1):53-57.
59. Serra AL, Poster D, Kistler AD, et al. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. N Engl J Med. 2010; 363(9):820-829.
