UpToDate
Official reprint from UpToDate®
www.uptodate.com ©2016 UpToDate®

Extrarenal manifestations of autosomal dominant polycystic kidney disease

Authors
William M Bennett, MD
Vicente E Torres, MD
Section Editor
Ronald D Perrone, MD
Deputy Editor
Alice M Sheridan, MD

INTRODUCTION

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by cysts in the kidneys and, in many cases, is associated with cysts in the liver and pancreas that can be helpful in confirming the diagnosis. In addition, patients may have a variety of other abnormalities, many of which are consistent with a generalized defect in epithelial cell differentiation and/or extracellular matrix function as a primary expression of the genetic abnormality in this disorder [1-5]. (See "Genetics of autosomal dominant polycystic kidney disease and mechanisms of cyst growth".)

This topic reviews the major extrarenal manifestations of ADPKD. The diagnosis, screening, and treatment of ADPKD are discussed elsewhere. (See "Diagnosis of and screening for autosomal dominant polycystic kidney disease" and "Course and treatment of autosomal dominant polycystic kidney disease".)

MAJOR EXTRARENAL COMPLICATIONS

The major extrarenal complications of ADPKD are:

Cerebral aneurysms

Hepatic and pancreatic cysts

                

Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Nov 2016. | This topic last updated: Mon Sep 26 00:00:00 GMT+00:00 2016.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2016 UpToDate, Inc.
References
Top
  1. Gabow PA. Autosomal dominant polycystic kidney disease--more than a renal disease. Am J Kidney Dis 1990; 16:403.
  2. Fick GM, Gabow PA. Hereditary and acquired cystic disease of the kidney. Kidney Int 1994; 46:951.
  3. Watson ML. Complications of polycystic kidney disease. Kidney Int 1997; 51:353.
  4. Grantham JJ. Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med 2008; 359:1477.
  5. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet 2007; 369:1287.
  6. Graf S, Schischma A, Eberhardt KE, et al. Intracranial aneurysms and dolichoectasia in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2002; 17:819.
  7. Schievink WI, Torres VE, Wiebers DO, Huston J 3rd. Intracranial arterial dolichoectasia in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1997; 8:1298.
  8. Qian Q, Younge BR, Torres VE. Retinal arterial and venous occlusions in patients with ADPKD. Nephrol Dial Transplant 2007; 22:1769.
  9. Griffin MD, Torres VE, Grande JP, Kumar R. Vascular expression of polycystin. J Am Soc Nephrol 1997; 8:616.
  10. Xu HW, Yu SQ, Mei CL, Li MH. Screening for intracranial aneurysm in 355 patients with autosomal-dominant polycystic kidney disease. Stroke 2011; 42:204.
  11. Chapman AB, Rubinstein D, Hughes R, et al. Intracranial aneurysms in autosomal dominant polycystic kidney disease. N Engl J Med 1992; 327:916.
  12. Schievink WI, Torres VE, Piepgras DG, Wiebers DO. Saccular intracranial aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1992; 3:88.
  13. 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; 3:1871.
  14. Chauveau D, Pirson Y, Verellen-Dumoulin C, et al. Intracranial aneurysms in autosomal dominant polycystic kidney disease. Kidney Int 1994; 45:1140.
  15. Belz MM, Hughes RL, Kaehny WD, et al. Familial clustering of ruptured intracranial aneurysms in autosomal dominant polycystic kidney disease. Am J Kidney Dis 2001; 38:770.
  16. Rossetti S, Chauveau D, Kubly V, et al. Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. Lancet 2003; 361:2196.
  17. Linn FH, Wijdicks EF, van der Graaf Y, et al. Prospective study of sentinel headache in aneurysmal subarachnoid haemorrhage. Lancet 1994; 344:590.
  18. Chauveau D, Sirieix ME, Schillinger F, et al. Recurrent rupture of intracranial aneurysms in autosomal dominant polycystic kidney disease. BMJ 1990; 301:966.
  19. Belz MM, Fick-Brosnahan GM, Hughes RL, et al. Recurrence of intracranial aneurysms in autosomal-dominant polycystic kidney disease. Kidney Int 2003; 63:1824.
  20. Gibbs GF, Huston J 3rd, Qian Q, et al. Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney disease. Kidney Int 2004; 65:1621.
  21. Irazabal MV, Huston J 3rd, Kubly V, et al. Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 2011; 6:1274.
  22. Chalouhi N, Chitale R, Jabbour P, et al. The case for family screening for intracranial aneurysms. Neurosurg Focus 2011; 31:E8.
  23. Schrier RW, Belz MM, Johnson AM, et al. Repeat imaging for intracranial aneurysms in patients with autosomal dominant polycystic kidney disease with initially negative studies: a prospective ten-year follow-up. J Am Soc Nephrol 2004; 15:1023.
  24. Wiebers DO, Torres VE. Screening for unruptured intracranial aneurysms in autosomal dominant polycystic kidney disease. N Engl J Med 1992; 327:953.
  25. Pirson Y, Chauveau D, Torres V. Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2002; 13:269.
  26. Huston J 3rd, Torres VE, Wiebers DO, Schievink WI. Follow-up of intracranial aneurysms in autosomal dominant polycystic kidney disease by magnetic resonance angiography. J Am Soc Nephrol 1996; 7:2135.
  27. Gabow PA, Johnson AM, Kaehny WD, et al. Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease. Hepatology 1990; 11:1033.
  28. Everson GT. Hepatic cysts in autosomal dominant polycystic kidney disease. Am J Kidney Dis 1993; 22:520.
  29. Chauveau D, Fakhouri F, Grünfeld JP. Liver involvement in autosomal-dominant polycystic kidney disease: therapeutic dilemma. J Am Soc Nephrol 2000; 11:1767.
  30. Bae KT, Zhu F, Chapman AB, et al. Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort. Clin J Am Soc Nephrol 2006; 1:64.
  31. Torres VE, Chapman AB, Perrone RD, et al. Analysis of baseline parameters in the HALT polycystic kidney disease trials. Kidney Int 2012; 81:577.
  32. Chebib FT, Jung Y, Heyer CM, et al. Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2016; 31:952.
  33. Fedeles SV, Tian X, Gallagher AR, et al. A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Nat Genet 2011; 43:639.
  34. Sherstha R, McKinley C, Russ P, et al. Postmenopausal estrogen therapy selectively stimulates hepatic enlargement in women with autosomal dominant polycystic kidney disease. Hepatology 1997; 26:1282.
  35. Bajwa ZH, Sial KA, Malik AB, Steinman TI. Pain patterns in patients with polycystic kidney disease. Kidney Int 2004; 66:1561.
  36. Bleeker-Rovers CP, de Sévaux RG, van Hamersvelt HW, et al. Diagnosis of renal and hepatic cyst infections by 18-F-fluorodeoxyglucose positron emission tomography in autosomal dominant polycystic kidney disease. Am J Kidney Dis 2003; 41:E18.
  37. Jouret F, Lhommel R, Beguin C, et al. Positron-emission computed tomography in cyst infection diagnosis in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 2011; 6:1644.
  38. Newman KD, Torres VE, Rakela J, Nagorney DM. Treatment of highly symptomatic polycystic liver disease. Preliminary experience with a combined hepatic resection-fenestration procedure. Ann Surg 1990; 212:30.
  39. Schnelldorfer T, Torres VE, Zakaria S, et al. Polycystic liver disease: a critical appraisal of hepatic resection, cyst fenestration, and liver transplantation. Ann Surg 2009; 250:112.
  40. Kirchner GI, Rifai K, Cantz T, et al. Outcome and quality of life in patients with polycystic liver disease after liver or combined liver-kidney transplantation. Liver Transpl 2006; 12:1268.
  41. Takei R, Ubara Y, Hoshino J, et al. Percutaneous transcatheter hepatic artery embolization for liver cysts in autosomal dominant polycystic kidney disease. Am J Kidney Dis 2007; 49:744.
  42. Qian Q, Du H, King BF, et al. Sirolimus reduces polycystic liver volume in ADPKD patients. J Am Soc Nephrol 2008; 19:631.
  43. Chrispijn M, Gevers TJ, Hol JC, et al. Everolimus does not further reduce polycystic liver volume when added to long acting octreotide: results from a randomized controlled trial. J Hepatol 2013; 59:153.
  44. Ruggenenti P, Remuzzi A, Ondei P, et al. Safety and efficacy of long-acting somatostatin treatment in autosomal-dominant polycystic kidney disease. Kidney Int 2005; 68:206.
  45. Caroli A, Antiga L, Cafaro M, et al. Reducing polycystic liver volume in ADPKD: effects of somatostatin analogue octreotide. Clin J Am Soc Nephrol 2010; 5:783.
  46. Hogan MC, Masyuk TV, Page LJ, et al. Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease. J Am Soc Nephrol 2010; 21:1052.
  47. Hogan MC, Masyuk TV, Page L, et al. Somatostatin analog therapy for severe polycystic liver disease: results after 2 years. Nephrol Dial Transplant 2012; 27:3532.
  48. Fick GM, Johnson AM, Hammond WS, Gabow PA. Causes of death in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1995; 5:2048.
  49. Higashihara E, Aso Y, Shimazaki J, et al. Clinical aspects of polycystic kidney disease. J Urol 1992; 147:329.
  50. Malka D, Hammel P, Vilgrain V, et al. Chronic obstructive pancreatitis due to a pancreatic cyst in a patient with autosomal dominant polycystic kidney disease. Gut 1998; 42:131.
  51. Lu W, Peissel B, Babakhanlou H, et al. Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. Nat Genet 1997; 17:179.
  52. Kim I, Ding T, Fu Y, et al. Conditional mutation of Pkd2 causes cystogenesis and upregulates beta-catenin. J Am Soc Nephrol 2009; 20:2556.
  53. Sato Y, Mukai M, Sasaki M, et al. Intraductal papillary-mucinous neoplasm of the pancreas associated with polycystic liver and kidney disease. Pathol Int 2009; 59:201.
  54. Leier CV, Baker PB, Kilman JW, Wooley CF. Cardiovascular abnormalities associated with adult polycystic kidney disease. Ann Intern Med 1984; 100:683.
  55. Hossack KF, Leddy CL, Johnson AM, et al. Echocardiographic findings in autosomal dominant polycystic kidney disease. N Engl J Med 1988; 319:907.
  56. Timio M, Monarca C, Pede S, et al. The spectrum of cardiovascular abnormalities in autosomal dominant polycystic kidney disease: a 10-year follow-up in a five-generation kindred. Clin Nephrol 1992; 37:245.
  57. Lumiaho A, Ikäheimo R, Miettinen R, et al. Mitral valve prolapse and mitral regurgitation are common in patients with polycystic kidney disease type 1. Am J Kidney Dis 2001; 38:1208.
  58. Itty CT, Farshid A, Talaulikar G. Spontaneous coronary artery dissection in a woman with polycystic kidney disease. Am J Kidney Dis 2009; 53:518.
  59. Basile C, Lucarelli K, Langialonga T. Spontaneous coronary artery dissection: One more extrarenal manifestation of autosomal dominant polycystic kidney disease? J Nephrol 2009; 22:414.
  60. Hadimeri H, Lamm C, Nyberg G. Coronary aneurysms in patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1998; 9:837.
  61. Qian Q, Hartman RP, King BF, Torres VE. Increased occurrence of pericardial effusion in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 2007; 2:1223.
  62. Scheff RT, Zuckerman G, Harter H, et al. Diverticular disease in patients with chronic renal failure due to polycystic kidney disease. Ann Intern Med 1980; 92:202.
  63. Gabow PA, Iklé DW, Holmes JH. Polycystic kidney disease: prospective analysis of nonazotemic patients and family members. Ann Intern Med 1984; 101:238.
  64. Sharp CK, Zeligman BE, Johnson AM, et al. Evaluation of colonic diverticular disease in autosomal dominant polycystic kidney disease without end-stage renal disease. Am J Kidney Dis 1999; 34:863.
  65. Morris-Stiff G, Coles G, Moore R, et al. Abdominal wall hernia in autosomal dominant polycystic kidney disease. Br J Surg 1997; 84:615.
  66. Modi KB, Grant AC, Garret A, Rodger RS. Indirect inguinal hernia in CAPD patients with polycystic kidney disease. Adv Perit Dial 1989; 5:84.
  67. Kumar S, Adeva M, King BF, et al. Duodenal diverticulosis in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2006; 21:3576.
  68. Torra R, Nicolau C, Badenas C, et al. Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1996; 7:2483.
  69. Alpern MB, Dorfman RE, Gross BH, et al. Seminal vesicle cysts: association with adult polycystic kidney disease. Radiology 1991; 180:79.
  70. Danaci M, Akpolat T, Baştemir M, et al. The prevalence of seminal vesicle cysts in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 1998; 13:2825.
  71. Torra R, Sarquella J, Calabia J, et al. Prevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 2008; 3:790.
  72. Li Vecchi M, Cianfrone P, Damiano R, Fuiano G. Infertility in adults with polycystic kidney disease. Nephrol Dial Transplant 2003; 18:190.
  73. Okada H, Fujioka H, Tatsumi N, et al. Assisted reproduction for infertile patients with 9 + 0 immotile spermatozoa associated with autosomal dominant polycystic kidney disease. Hum Reprod 1999; 14:110.
  74. Fang S, Baker HW. Male infertility and adult polycystic kidney disease are associated with necrospermia. Fertil Steril 2003; 79:643.
  75. Schievink WI, Huston J 3rd, Torres VE, Marsh WR. Intracranial cysts in autosomal dominant polycystic kidney disease. J Neurosurg 1995; 83:1004.
  76. Alehan FK, Gürakan B, Ağildere M. Familial arachnoid cysts in association with autosomal dominant polycystic kidney disease. Pediatrics 2002; 110:e13.
  77. Wijdicks EF, Torres VE, Schievink WI. Chronic subdural hematoma in autosomal dominant polycystic kidney disease. Am J Kidney Dis 2000; 35:40.
  78. Abderrahim E, Hedri H, Lâabidi J, et al. Chronic subdural haematoma and autosomal polycystic kidney disease: report of two new cases. Nephrology (Carlton) 2004; 9:331.
  79. Schievink WI, Torres VE. Spinal meningeal diverticula in autosomal dominant polycystic kidney disease. Lancet 1997; 349:1223.
  80. Driscoll JA, Bhalla S, Liapis H, et al. Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis. Chest 2008; 133:1181.
  81. Stamm ER, Townsend RR, Johnson AM, et al. Frequency of ovarian cysts in patients with autosomal dominant polycystic kidney disease. Am J Kidney Dis 1999; 34:120.
  82. Heinonen PK, Vuento M, Maunola M, Ala-Houhala I. Ovarian manifestations in women with autosomal dominant polycystic kidney disease. Am J Kidney Dis 2002; 40:504.
  83. Yu TM, Chuang YW, Yu MC, et al. Risk of cancer in patients with polycystic kidney disease: a propensity-score matched analysis of a nationwide, population-based cohort study. Lancet Oncol 2016; 17:1419.
  84. Wetmore JB, Calvet JP, Yu AS, et al. Polycystic kidney disease and cancer after renal transplantation. J Am Soc Nephrol 2014; 25:2335.