Skip to main content

Advertisement

Log in

Abstract

The adult forms of polycystic liver disease are characterized by autosomal dominant inheritance and numerous hepatic cysts, with or without renal involvement. Mutations in two distinct genes predispose to renal and liver cysts (PKD1 and PKD2), and mutations in two different genes yield isolated liver cysts (PRKCSH and SEC63). Mutations at certain loci of PKD1 may predispose to more severe renal cystic disease or cerebral aneurysms. Risk factors for severe hepatic cystic disease include aging, female sex, pregnancy, use of exogenous female steroid hormones, degree of renal cystic disease, or severity of renal dysfunction (in patients with mutations in PKD1 or PKD2). Although liver failure or complications of advanced liver disease is rare, some patients develop massive hepatic cystic disease and become clinically symptomatic. There is no effective medical therapy. Treatment options include cyst aspiration and sclerosis, open or laparoscopic cyst fenestration, hepatic resection, and liver transplantation.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References and Recommended Reading

  1. Fick GM, Gabow PA: Natural history of autosomal dominant polycystic kidney disease. Ann Rev Med 1994, 45:23–29.

    Article  PubMed  CAS  Google Scholar 

  2. D’Agata ID, Jonas MM, Perez-Atayde AR, Guay-Woodford LM: Combined cystic disease of the liver and kidney. Semin Liver Dis 1994, 14:215–228.

    Article  PubMed  CAS  Google Scholar 

  3. Gabow PA, Johnson AM, Kaehny WD, et al.: Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease. Hepatology 1990, 11:1033–1037. This study examined a large cohort of patients with AD-PKD to define clinical, biochemical, and ultrasonographic correlates of hepatic cystic disease. The patients in this cohort likely had mutations in either PKD1 or PKD2 because renal cystic disease was part of the inclusion criteria.

    Article  PubMed  CAS  Google Scholar 

  4. Harris RA, Gray DW, Britton BJ, et al.: Hepatic cystic disease in an adult polycystic kidney disease transplant population. Austr N Z J Surg 1996, 66:166–168.

    CAS  Google Scholar 

  5. Everson GT: Hepatic cysts in autosomal dominant polycystic kidney disease. Am J Kidney Dis 1993, 22:520–525.

    PubMed  CAS  Google Scholar 

  6. Everson G: Hepatic cysts in ADPKD. Mayo Clin Proc 1990, 65:1020–1025.

    PubMed  CAS  Google Scholar 

  7. Fick GM, Gabow PA: Hereditary and acquired cystic disease of the kidney. Kidney Int 1994, 46:951–964.

    Article  PubMed  CAS  Google Scholar 

  8. Daoust MC, Reynolds DM, Bichet DG, Somlo S: Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 1995, 25:733–736.

    Article  PubMed  CAS  Google Scholar 

  9. de Almeida S, de Almeida E, Peters D, et al.: Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum Genet 1995, 96:83–88.

    Article  PubMed  Google Scholar 

  10. Hateboer N, van Dijk MA, Bogdanova M: Comparison of phenotypes of PKD types 1 and 2. European PKD1-PKD2 Study Group. Lancet 1999, 353:103–107. Differences in clinical expression of disease were compared between cohorts of patients affected by mutations in PKD1 or PKD2.

    Article  PubMed  CAS  Google Scholar 

  11. Pirson Y, Lannoy N, Peters D, et al.: Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. Hepatology 1996, 23:249–252.

    Article  PubMed  CAS  Google Scholar 

  12. Davila S, Furu L, Gharavi AG, et al.: Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet 2004, 36:575–577.

    Article  PubMed  CAS  Google Scholar 

  13. Shrestha R, Mckinley C, Russ P, et al.: Postmenopausal estrogen therapy selectively stimulates hepatic enlargement in women with autosomal dominant polycystic kidney disease. Hepatology 1997, 26:1282–1286.

    Google Scholar 

  14. Qian Q, Li A, King BF, et al.: Clinical profile of autosomal dominant polycystic liver disease. Hepatology 2003, 37:164–171.

    Article  PubMed  Google Scholar 

  15. Ward CJ, Turley H, Ong ACM, et al.: Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. Proc Natl Acad Sci U S A 1996, 93:1524–1528.

    Article  PubMed  CAS  Google Scholar 

  16. Rossetti S, Strmecki L, Gamble V, et al.: Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet 2001, 68:46–63. The PKD1 gene was completely sequenced and analyzed for loci and extent of mutations in families affected with AD-PKD. Specific mutations were correlated to clinical variables.

    Article  PubMed  CAS  Google Scholar 

  17. Watnick TJ, Phakdeekitcharoen B, Johnson A, et al.: Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. Am J Hum Genet 1999, 65:1561–1571.

    Article  PubMed  CAS  Google Scholar 

  18. Rossetti S, Burton S, Strmecki L, et al.: The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J Am Soc Nephrol 2002, 13:1230–1237.

    Article  PubMed  CAS  Google Scholar 

  19. Mochizuki T, Wu G, Hayashi T, et al.: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996, 272:1339–1342.

    Article  PubMed  CAS  Google Scholar 

  20. Deltas CC: Mutations of the human polycystic kidney disease 2 (PKD2) gene. Hum Mut 2001, 18:13–24. The PKD2 gene was completely sequenced and analyzed for loci and extent of mutations in families affected with AD-PKD. Specific mutations were correlated to clinical variables.

    Article  PubMed  CAS  Google Scholar 

  21. Reynolds DM, Falk CT, Li A, et al.: Identification of a locus for autosomal dominant polycystic liver disease on chromosome 19p13.2-13.1. Am J Hum Genet 2000, 67:1598–1604.

    Article  PubMed  CAS  Google Scholar 

  22. Li A, Davila S, Furu L, Qian Q, et al.: Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. Am J Hum Genet 2003, 72:691–703. Genetic study of patients with isolated PCLD who lacked evidence of linkage to PKD1 or PKD2. Mutations of a different unique gene, PRKCSH, were defined as causally linked to PCLD.

    Article  PubMed  CAS  Google Scholar 

  23. Drenth JPH, Morsche RHM, Smink R, et al.: Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. Nat Genet 2003, 33:345–347.

    Article  PubMed  CAS  Google Scholar 

  24. Drenth JP, Tahvanainen E, te Morsche RH, et al.: Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. Hepatology 2004, 39:924–931.

    Article  PubMed  CAS  Google Scholar 

  25. Tahvanainen P, Tahvanainen E, Reijonen H, et al.: Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families. J Hepatol 2003, 38:39–43.

    Article  PubMed  CAS  Google Scholar 

  26. Davila S, Furu L, Gharavi AG, et al.: Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet 2004, 36:575–577.

    Article  PubMed  CAS  Google Scholar 

  27. Everson G, Emmett M, Brown W, et al.: Functional similarities of hepatic and biliary epithelium: studies of fluid constituents and in vivo secretion in response to secretin. Hepatology 1990, 11:557–565.

    Article  PubMed  CAS  Google Scholar 

  28. Everson GT, Taylor MR, Doctor RB: Polycystic liver disease. Hepatology 2004, 40:774–782. Extensive review of the genetics, molecular biology, risk factors, clinical features, and treatment options for all forms of autosomal dominant polycystic liver disease.

    PubMed  CAS  Google Scholar 

  29. Thomas R, McConnel R, Whittacker J, et al.: Identification of mutations in the repeated part of the ADPKD type 1 gene, PKD1, by long-range PCR. Am J Hum Genet 1999, 65:39–49.

    Article  PubMed  CAS  Google Scholar 

  30. Everson GT, Scherzinger A, Berger-Leff N, et al.: Polycystic liver disease: quantitation of parenchymal and cyst volumes from computed tomography images and clinical correlates of hepatic cysts. Hepatology 1988, 8:1627–1634.

    Article  PubMed  CAS  Google Scholar 

  31. Chauveau D, Fakhouri F, Grunfeld J-P: Liver involvement in autosomal-dominant polycystic kidney disease: therapeutic dilemma. J Am Soc Nephrol 2000, 11:1767–1775.

    PubMed  CAS  Google Scholar 

  32. 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, 38:777–784.

    PubMed  CAS  Google Scholar 

  33. Telenti A, Torres VE, Gross JB, et al.: Hepatic cyst infection in autosomal dominant polycystic kidney disease. Mayo Clin Proc 1990, 65:933–942.

    PubMed  CAS  Google Scholar 

  34. Uddin W, Ramage JK, Portmann B, et al.: Hepatic venous outflow obstruction in patients with polycystic liver disease: pathogenesis and treatment. Gut 1995, 36:142–145.

    PubMed  CAS  Google Scholar 

  35. Torres VE, Rastogi S, King BF, et al.: Hepatic venous outflow obstruction in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1994, 5:1186–1192.

    PubMed  CAS  Google Scholar 

  36. Chapman AB, Rubinstein D, Hughes R, et al.: Intracranial aneurysms in autosomal dominant polycystic kidney disease. N Engl J Med 1992, 327:916–920.

    Article  PubMed  CAS  Google Scholar 

  37. Chauveau D, Martinez F, Grunfeld JP: Evaluation of octreotide in massive polycystic liver disease. Presented at 12th International Congress of Nephrology. Jerusalem, Israel. June 13–18, 1993:487A.

  38. vanSonnenberg E, Wroblicka JT, D’Agostino HB, et al.: Symptomatic hepatic cysts: percutaneous drainage and sclerosis. Radiology 1994, 190:387–392.

    Google Scholar 

  39. Tikkakoski T, Makela JT, Leinonen S, et al.: Treatment of symptomatic congenital hepatic cysts with single-session percutaneous drainage and ethanol sclerosis: technique and outcome. J Vasc Interv Radiol 1996, 7:235–239.

    Article  PubMed  CAS  Google Scholar 

  40. Gigot JF, Jadoul P, Que F, et al.: Adult polycystic liver disease: Is fenestration the most adequate operation for long-term management? Ann Surg 1997, 225:286–294.

    Article  PubMed  CAS  Google Scholar 

  41. Robinson TN, Stiegmann GV, Everson GT: Laparoscopic palliation of polycystic liver disease. Surg Endosc 2004. Nov 11; [Epub ahead of print]. Review of single-center and published experience with laparoscopic cyst decompression for massive polycystic liver disease.

  42. Que F, Nagorney DM, Gross JBJ, Torres VE: Liver resection and cyst fenestration in the treatment of severe polycystic liver disease. Gastroenterology 1995, 108:487–494. Single-center experience with hepatic resection in the treatment of massive hepatic polycystic disease.

    Article  PubMed  CAS  Google Scholar 

  43. Klupp J, Bechstein WO, Lobeck H, Neuhaus P: Orthotopic liver transplantation in therapy of advanced polycystic liver disease. Chirurg 1996, 67:515–521.

    PubMed  CAS  Google Scholar 

  44. Washburn WK, Johnson LB, Lewis WD, Jenkins RL: Liver transplantation for adult polycystic liver disease. Liver Transpl Surg 1996, 2:17–22.

    Article  PubMed  CAS  Google Scholar 

  45. Lang H, Woellwarth JV, Oldhafer KJ, et al.: Liver transplantation in patients with polycystic liver disease. Transplant Proc 1997, 29:2832–2833.

    Article  PubMed  CAS  Google Scholar 

  46. Swenson K, Seu P, Kinkhabwala M, et al.: Liver transplantation for adult polycystic disease. Hepatology 1998, 28:412–415.

    Article  PubMed  CAS  Google Scholar 

  47. Pirenne J, Aerts R, Yoong K, et al.: Liver transplantation for polycystic liver disease. Liver Transpl 2001, 7:238–245.

    Article  PubMed  CAS  Google Scholar 

  48. Gustafsson BI, Friman S, Mjornstedt L, et al.: Liver transplantation for polycystic liver disease: indications and outcomes. Transplant Proc 2003, 35:813–814. Review of indications and outcomes of liver transplantation for polycystic liver disease.

    Article  PubMed  CAS  Google Scholar 

  49. US Scientific Registry of Transplant Recipients. http:// www.transplant.org/str.php February 2004.

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Everson, G.T., Taylor, M.R.G. Management of polycystic liver disease. Curr Gastroenterol Rep 7, 19–25 (2005). https://doi.org/10.1007/s11894-005-0061-6

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11894-005-0061-6

Keywords

Navigation