Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management

详细信息    查看全文

• 作者：Wybrich R Cnossen (1)
  Joost PH Drenth (1)
  
  1. Department of Gastroenterology and Hepatology ; Institute for Genetic and Metabolic Disease ; Radboud university medical center ; Geert Grooteplein-Zuid 10 ; P.O. Box 9101 ; 6525 GA ; Nijmegen ; The Netherlands
  
• 关键词：Cystogenesis ; Polycystic liver disease (PLD) ; Hepatomegaly ; Biliary tract disease ; Ductal plate malformation (DPM) ; Von Meyenburg complex (VMC) ; Autosomal dominant polycystic liver disease (PCLD) ; Autosomal dominant polycystic kidney disease (ADPKD)
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：9
• 期：1
• 全文大小：1,388 KB
• 参考文献：1. Roskams, T, Desmet, V (2008) Embryology of extra- and intrahepatic bile ducts, the ductal plate. Anat Rec (Hoboken) 291: pp. 628-635 CrossRef
  2. Raynaud, P, Carpentier, R, Antoniou, A, Lemaigre, FP (2011) Biliary differentiation and bile duct morphogenesis in development and disease. Int J Biochem Cell Biol 43: pp. 245-256 9.07.020" target="_blank" title="It opens in new window">CrossRef
  3. Strazzabosco, M, Fabris, L (2012) Development of the bile ducts: essentials for the clinical hepatologist. J Hepatol 56: pp. 1159-1170 9.022" target="_blank" title="It opens in new window">CrossRef
  4. Drenth, JP, Chrispijn, M, Bergmann, C (2010) Congenital fibrocystic liver diseases. Best Pract Res Clin Gastroenterol 24: pp. 573-584 CrossRef
  5. Zheng, RQ, Zhang, B, Kudo, M, Onda, H, Inoue, T (2005) Imaging findings of biliary hamartomas. World J Gastroenterol 11: pp. 6354-6359
  6. Raynaud, P, Tate, J, Callens, C, Cordi, S, Vandersmissen, P, Carpentier, R, Sempoux, C, Devuyst, O, Pierreux, CE, Courtoy, P, Dahan, K, Delbecque, K, Lepreux, S, Pontoglio, M, Guay-Woodford, LM, Lemaigre, FP (2011) A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis. Hepatology 53: pp. 1959-1966 92" target="_blank" title="It opens in new window">CrossRef
  7. Desmet, VJ (1998) Ludwig symposium on biliary disorders鈥損art I. Pathogenesis of ductal plate abnormalities. Mayo Clin Proc 73: pp. 80-89 96(11)63624-0" target="_blank" title="It opens in new window">CrossRef
  8. Hildebrandt, F, Benzing, T, Katsanis, N (2011) Ciliopathies. N Engl J Med 364: pp. 1533-1543 CrossRef
  9. Mortele, KJ, Ros, PR (2001) Cystic focal liver lesions in the adult: differential CT and MR imaging features. Radiographics 21: pp. 895-910 95" target="_blank" title="It opens in new window">CrossRef
  10. Salo, J, Bru, C, Vilella, A, Gines, P, Gilabert, R, Castells, A, Bruguera, M, Rodes, J (1992) Bile-duct hamartomas presenting as multiple focal lesions on hepatic ultrasonography. Am J Gastroenterol 87: pp. 221-223
  11. Lemaigre, FP (2009) Mechanisms of liver development: concepts for understanding liver disorders and design of novel therapies. Gastroenterology 137: pp. 62-79 9.03.035" target="_blank" title="It opens in new window">CrossRef
  12. Gunay-Aygun, M (2009) Liver and kidney disease in ciliopathies. Am J Med Genet C: Semin Med Genet 151C: pp. 296-306 CrossRef
  13. Torres, VE, Harris, PC, Pirson, Y (2007) Autosomal dominant polycystic kidney disease. Lancet 369: pp. 1287-1301 CrossRef
  14. Bae, KT, Zhu, F, Chapman, AB, Torres, VE, Grantham, JJ, Guay-Woodford, LM, Baumgarten, DA, King, BF, Wetzel, LH, Kenney, PJ, Brummer, ME, Bennett, WM, Klahr, S, Meyers, CM, Zhang, X, Thompson, PA, Miller, JP (2006) 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 1: pp. 64-69 CrossRef
  15. Van Keimpema, L, De Koning, DB, Van Hoek, B, Van Den Berg, AP, Van Oijen, MG, De Man, RA, Nevens, F, Drenth, JP (2011) Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases. Liver Int 31: pp. 92-98 CrossRef
  16. Redston, MS, Wanless, IR (1996) The hepatic von Meyenburg complex: prevalence and association with hepatic and renal cysts among 2843 autopsies [corrected]. Mod Pathol 9: pp. 233-237
  17. Brancatelli, G, Federle, MP, Vilgrain, V, Vullierme, MP, Marin, D, Lagalla, R (2005) Fibropolycystic liver disease: CT and MR imaging findings. Radiographics 25: pp. 659-670 CrossRef
  18. Karahan, OI, Kahriman, G, Soyuer, I, Ok, E (2007) Hepatic von Meyenburg complex simulating biliary cystadenocarcinoma. Clin Imaging 31: pp. 50-53 CrossRef
  19. Qian, Q, Li, A, King, BF, Kamath, PS, Lager, DJ, Huston, J, Shub, C, Davila, S, Somlo, S, Torres, VE (2003) Clinical profile of autosomal dominant polycystic liver disease. Hepatology 37: pp. 164-171 CrossRef
  20. Temmerman, F, Missiaen, L, Bammens, B, Laleman, W, Cassiman, D, Verslype, C, Van Pelt, J, Nevens, F (2011) Systematic review: the pathophysiology and management of polycystic liver disease. Aliment Pharmacol Ther 34: pp. 702-713 CrossRef
  21. Chapman, AB (2003) Cystic disease in women: clinical characteristics and medical management. Adv Ren Replace Ther 10: pp. 24-30 CrossRef
  22. Sherstha, R, McKinley, C, Russ, P, Scherzinger, A, Bronner, T, Showalter, R, Everson, GT (1997) Postmenopausal estrogen therapy selectively stimulates hepatic enlargement in women with autosomal dominant polycystic kidney disease. Hepatology 26: pp. 1282-1286
  23. Gabow, PA, Johnson, AM, Kaehny, WD, Manco-Johnson, ML, Duley, IT, Everson, GT (1990) Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease. Hepatology 11: pp. 1033-1037 9" target="_blank" title="It opens in new window">CrossRef
  24. Pei, Y (2006) Diagnostic approach in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 1: pp. 1108-1114 90606" target="_blank" title="It opens in new window">CrossRef
  25. Peters, DJ, Breuning, MH (2001) Autosomal dominant polycystic kidney disease: modification of disease progression. Lancet 358: pp. 1439-1444 CrossRef
  26. Macutkiewicz, C, Plastow, R, Chrispijn, M, Filobbos, R, Ammori, BA, Sherlock, DJ, Drenth, JP, O鈥橰eilly, DA (2012) Complications arising in simple and polycystic liver cysts. World J Hepatol 4: pp. 406-411
  27. Hoevenaren, IA, Wester, R, Schrier, RW, McFann, K, Doctor, RB, Drenth, JP, Everson, GT (2008) Polycystic liver: clinical characteristics of patients with isolated polycystic liver disease compared with patients with polycystic liver and autosomal dominant polycystic kidney disease. Liver Int 28: pp. 264-270 95.x" target="_blank" title="It opens in new window">CrossRef
  28. Marion, Y, Brevartt, C, Plard, L, Chiche, L (2013) Hemorrhagic liver cyst rupture: an unusual life-threatening complication of hepatic cyst and literature review. Ann Hepatol 12: pp. 336-339
  29. Jouret, F, Lhommel, R, Devuyst, O, Annet, L, Pirson, Y, Hassoun, Z, Kanaan, N (2012) Diagnosis of cyst infection in patients with autosomal dominant polycystic kidney disease: attributes and limitations of the current modalities. Nephrol Dial Transplant 27: pp. 3746-3751 93/ndt/gfs352" target="_blank" title="It opens in new window">CrossRef
  30. Waanders, E, Van Keimpema, L, Brouwer, JT, Van Oijen, MG, Aerts, R, Sweep, FC, Nevens, F, Drenth, JP (2009) Carbohydrate antigen 19鈥? is extremely elevated in polycystic liver disease. Liver Int 29: pp. 1389-1395 9.02055.x" target="_blank" title="It opens in new window">CrossRef
  31. Kanaan, N, Goffin, E, Pirson, Y, Devuyst, O, Hassoun, Z (2010) Carbohydrate antigen 19鈥? as a diagnostic marker for hepatic cyst infection in autosomal dominant polycystic kidney disease. Am J Kidney Dis 55: pp. 916-922 9.12.023" target="_blank" title="It opens in new window">CrossRef
  32. Akriviadis, EA, Steindel, H, Ralls, P, Redeker, AG (1989) Spontaneous rupture of nonparasitic cyst of the liver. Gastroenterology 97: pp. 213-215
  33. Uddin, W, Ramage, JK, Portmann, B, Wilson, P, Benjamin, I, Tan, KC, Williams, R (1995) Hepatic venous outflow obstruction in patients with polycystic liver disease: pathogenesis and treatment. Gut 36: pp. 142-145 CrossRef
  34. Johnstone, AJ, Turnbull, LW, Allan, PL, Garden, OJ (1993) Cholangitis and Budd Chiari syndrome as complications of simple cystic liver disease. HPB Surg 6: pp. 223-227 993/47873" target="_blank" title="It opens in new window">CrossRef
  35. Torres, VE, Rastogi, S, King, BF, Stanson, AW, Gross, JB, Nogorney, DM (1994) Hepatic venous outflow obstruction in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 5: pp. 1186-1192
  36. Grams, J, Teh, SH, Torres, VE, Andrews, JC, Nagorney, DM (2007) Inferior vena cava stenting: a safe and effective treatment for intractable ascites in patients with polycystic liver disease. J Gastrointest Surg 11: pp. 985-990 CrossRef
  37. Chauveau, D, Grunfeld, JP, Durand, F, Belghiti, J (1997) Ascites in a polycystic patient. Nephrol Dial Transplant 12: pp. 228-230 93/ndt/12.1.228" target="_blank" title="It opens in new window">CrossRef
  38. Lai, EC, Wong, J (1990) Symptomatic nonparasitic cysts of the liver. World J Surg 14: pp. 452-456 CrossRef
  39. Van Keimpema, L, Nevens, F, Adam, R, Porte, RJ, Fikatas, P, Becker, T, Kirkegaard, P, Metselaar, HJ, Drenth, JP, European, L (2011) Intestine Transplant A: Excellent survival after liver transplantation for isolated polycystic liver disease: an European Liver Transplant Registry study. Transpl Int 24: pp. 1239-1245 CrossRef
  40. Morgan, DE, Lockhart, ME, Canon, CL, Holcombe, MP, Bynon, JS (2006) Polycystic liver disease: multimodality imaging for complications and transplant evaluation. Radiographics 26: pp. 1655-1668 CrossRef
  41. Hateboer, N, Dijk MA, V, Bogdanova, N, Coto, E, Saggar-Malik, AK, San Millan, JL, Torra, R, Breuning, M, Ravine, D (1999) Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet 353: pp. 103-107 98)03495-3" target="_blank" title="It opens in new window">CrossRef
  42. Chapman, AB, Stepniakowski, K, Rahbari-Oskoui, F (2010) Hypertension in autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis 17: pp. 153-163 CrossRef
  43. Torres, VE, Chapman, AB, Perrone, RD, Bae, KT, Abebe, KZ, Bost, JE, Miskulin, DC, Steinman, TI, Braun, WE, Winklhofer, FT, Hogan, MC, Oskoui, FR, Kelleher, C, Masoumi, A, Glockner, J, Halin, NJ, Martin, DR, Remer, E, Patel, N, Pedrosa, I, Wetzel, LH, Thompson, PA, Miller, JP, Meyers, CM, Schrier, RW (2012) Analysis of baseline parameters in the HALT polycystic kidney disease trials. Kidney Int 81: pp. 577-585 CrossRef
  44. Qian, Q (2010) Isolated polycystic liver disease. Adv Chronic Kidney Dis 17: pp. 181-189 9.12.005" target="_blank" title="It opens in new window">CrossRef
  45. Ecder, T, Schrier, RW (2009) Cardiovascular abnormalities in autosomal-dominant polycystic kidney disease. Nat Rev Nephrol 5: pp. 221-228 9.13" target="_blank" title="It opens in new window">CrossRef
  46. De Almeida, EA, De Oliveira, EI, Lopes, JA, Almeida, AG, Lopes, MG, Prata, MM (2007) Diastolic function in several stages of chronic kidney disease in patients with autosomal dominant polycystic kidney disease: a tissue Doppler imaging study. Kidney Blood Press Res 30: pp. 234-239 9/000104092" target="_blank" title="It opens in new window">CrossRef
  47. Gevers, TJ, De Koning, DB, Van Dijk, AP, Drenth, JP (2012) Low prevalence of cardiac valve abnormalities in patients with autosomal dominant polycystic liver disease. Liver Int 32: pp. 690-692 CrossRef
  48. Timio, M, Monarca, C, Pede, S, Gentili, S, Verdura, C, Lolli, S (1992) The spectrum of cardiovascular abnormalities in autosomal dominant polycystic kidney disease: a 10-year follow-up in a five-generation kindred. Clin Nephrol 37: pp. 245-251
  49. Kato, A, Takita, T, Furuhashi, M, Maruyama, Y, Hishida, A (2001) Abdominal aortic aneurysms in hemodialysis patients with autosomal dominant polycystic kidney disease. Nephron 88: pp. 185-186 9/000045984" target="_blank" title="It opens in new window">CrossRef
  50. Schievink, WI, Spetzler, RF (1998) Screening for intracranial aneurysms in patients with isolated polycystic liver disease. J Neurosurg 89: pp. 719-721 998.89.5.0719" target="_blank" title="It opens in new window">CrossRef
  51. Pirson, Y, Chauveau, D, Torres, V (2002) Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 13: pp. 269-276
  52. Torra, R, Nicolau, C, Badenas, C, Navarro, S, Perez, L, Estivill, X, Darnell, A (1997) Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease. Clin Nephrol 47: pp. 19-22
  53. Torra, R, Sarquella, J, Calabia, J, Marti, J, Ars, E, Fernandez-Llama, P, Ballarin, J (2008) Prevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 3: pp. 790-793 CrossRef
  54. Morris-Stiff, G, Coles, G, Moore, R, Jurewicz, A, Lord, R (1997) Abdominal wall hernia in autosomal dominant polycystic kidney disease. Br J Surg 84: pp. 615-617 9" target="_blank" title="It opens in new window">CrossRef
  55. Sharp, CK, Zeligman, BE, Johnson, AM, Duley, I, Gabow, PA (1999) Evaluation of colonic diverticular disease in autosomal dominant polycystic kidney disease without end-stage renal disease. Am J Kidney Dis 34: pp. 863-868 99)70043-0" target="_blank" title="It opens in new window">CrossRef
  56. Drenth, JP, Te Morsche, RH, Smink, R, Bonifacino, JS, Jansen, JB (2003) Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. Nat Genet 33: pp. 345-347 CrossRef
  57. Li, A, Davila, S, Furu, L, Qian, Q, Tian, X, Kamath, PS, King, BF, Torres, VE, Somlo, S (2003) Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. Am J Hum Genet 72: pp. 691-703 95" target="_blank" title="It opens in new window">CrossRef
  58. Davila, S, Furu, L, Gharavi, AG, Tian, X, Onoe, T, Qian, Q, Li, A, Cai, Y, Kamath, PS, King, BF, Azurmendi, PJ, Tahvanainen, P, K盲盲ri盲inen, H, H枚ckerstedt, K, Devuyst, O, Pirson, Y, Martin, RS, Lifton, RP, Tahvanainen, E, Torres, VE, Somlo, S (2004) Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet 36: pp. 575-577 CrossRef
  59. Drenth, JP, Martina, JA, van de Kerkhof, R, Bonifacino, JS, Jansen, JB (2005) Polycystic liver disease is a disorder of cotranslational protein processing. Trends Mol Med 11: pp. 37-42 CrossRef
  60. Janssen, MJ, Waanders, E, Woudenberg, J, Lefeber, DJ, Drenth, JP (2010) Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. J Hepatol 52: pp. 432-440 9.12.011" target="_blank" title="It opens in new window">CrossRef
  61. Waanders, E, Te Morsche, RH, De Man, RA, Jansen, JB, Drenth, JP (2006) Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. Hum Mutat 27: pp. 830 9441" target="_blank" title="It opens in new window">CrossRef
  62. Rossetti, S, Consugar, MB, Chapman, AB, Torres, VE, Guay-Woodford, LM, Grantham, JJ, Bennett, WM, Meyers, CM, Walker, DL, Bae, K, Zhang, QJ, Thompson, PA, Miller, JP, Harris, PC (2007) Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 18: pp. 2143-2160 CrossRef
  63. Waanders, E, Venselaar, H, Te Morsche, RH, De Koning, DB, Kamath, PS, Torres, VE, Somlo, S, Drenth, JP (2010) Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63. Clin Genet 78: pp. 47-56 99-0004.2009.01353.x" target="_blank" title="It opens in new window">CrossRef
  64. Reynolds, DM, Falk, CT, Li, A, King, BF, Kamath, PS, Huston, J, Shub, C, Iglesias, DM, Martin, RS, Pirson, Y, Torres, VE, Somlo, S (2000) Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. Am J Hum Genet 67: pp. 1598-1604 904" target="_blank" title="It opens in new window">CrossRef
  65. Ravine, D, Gibson, RN, Walker, RG, Sheffield, LJ, Kincaid-Smith, P, Danks, DM (1994) Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 343: pp. 824-827 94)92026-5" target="_blank" title="It opens in new window">CrossRef
  66. Pei, Y, Obaji, J, Dupuis, A, Paterson, AD, Magistroni, R, Dicks, E, Parfrey, P, Cramer, B, Coto, E, Torra, R, San Millan, JL, Gibson, R, Breuning, M, Peters, D, Ravine, D (2009) Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol 20: pp. 205-212 CrossRef
  67. Ariza, M, Alvarez, V, Marin, R, Aguado, S, Lopez-Larrea, C, Alvarez, J, Menendez, MJ, Coto, E (1997) 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: pp. 587-589 CrossRef
  68. Paterson, AD, Pei, Y (1998) Is there a third gene for autosomal dominant polycystic kidney disease?. Kidney Int 54: pp. 1759-1761 998.00166.x" target="_blank" title="It opens in new window">CrossRef
  69. Daoust, MC, Reynolds, DM, Bichet, DG, Somlo, S (1995) Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25: pp. 733-736 95)80020-M" target="_blank" title="It opens in new window">CrossRef
  70. Watnick, TJ, Torres, VE, Gandolph, MA, Qian, F, Onuchic, LF, Klinger, KW, Landes, G, Germino, GG (1998) Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Mol Cell 2: pp. 247-251 97-2765(00)80135-5" target="_blank" title="It opens in new window">CrossRef
  71. Pei, Y, Watnick, T, He, N, Wang, K, Liang, Y, Parfrey, P, Germino, G, St George-Hyslop, P (1999) Somatic PKD2 mutations in individual kidney and liver cysts support a 鈥渢wo-hit鈥?model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol 10: pp. 1524-1529
  72. Janssen, MJ, Waanders, E, Te Morsche, RH, Xing, R, Dijkman, HB, Woudenberg, J, Drenth, JP (2011) Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease. Gastroenterology 141: pp. 2056-2063 e2052 CrossRef
  73. Janssen, MJ, Salomon, J, Te Morsche, RH, Drenth, JP (2012) Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease. PLoS ONE 7: pp. e50324 CrossRef
  74. Bergmann, C, Von Bothmer, J, Ortiz Bruchle, N, Venghaus, A, Frank, V, Fehrenbach, H, Hampel, T, Pape, L, Buske, A, Jonsson, J, Sarioglu, N, Santos, A, Ferreira, JC, Becker, JU, Cremer, R, Hoefele, J, Benz, MR, Weber, LT, Buettner, R, Zerres, K (2011) Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol 22: pp. 2047-2056 CrossRef
  75. Nichols, MT, Gidey, E, Matzakos, T, Dahl, R, Stiegmann, G, Shah, RJ, Grantham, JJ, Fitz, JG, Doctor, RB (2004) Secretion of cytokines and growth factors into autosomal dominant polycystic kidney disease liver cyst fluid. Hepatology 40: pp. 836-846 CrossRef
  76. Waanders, E, Lameris, AL, Op den Camp, HJ, Pluk, W, Gloerich, J, Strijk, SP, Drenth, JP (2008) Hepatocystin is not secreted in cyst fluid of hepatocystin mutant polycystic liver patients. J Proteome Res 7: pp. 2490-2495 CrossRef
  77. Alvaro, D, Onori, P, Alpini, G, Franchitto, A, Jefferson, DM, Torrice, A, Cardinale, V, Stefanelli, F, Mancino, MG, Strazzabosco, M, Angelico, M, Attili, A, Gaudio, E (2008) Morphological and functional features of hepatic cyst epithelium in autosomal dominant polycystic kidney disease. Am J Pathol 172: pp. 321-332 93" target="_blank" title="It opens in new window">CrossRef
  78. Gevers, TJ, Drenth, JP (2013) Diagnosis and management of polycystic liver disease. Nat Rev Gastroenterol Hepatol 10: pp. 101-108 CrossRef
  79. Tahvanainen, E, Tahvanainen, P, Kaariainen, H, Hockerstedt, K (2005) Polycystic liver and kidney diseases. Ann Med 37: pp. 546-555 90500389181" target="_blank" title="It opens in new window">CrossRef
  80. Rossetti, S, Chauveau, D, Kubly, V, Slezak, JM, Saggar-Malik, AK, Pei, Y, Ong, AC, Stewart, F, Watson, ML, Bergstralh, EJ, Winearls, CG, Torres, VE, Harris, PC (2003) Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. Lancet 361: pp. 2196-2201 CrossRef
  81. Luciano, RL, Dahl, NK (2014) Extra-renal manifestations of ADPKD: considerations for routine screening and management. Nephrol Dial Transplant 29: pp. 247-254 93/ndt/gft437" target="_blank" title="It opens in new window">CrossRef
  82. Wijnands, TF, Neijenhuis, MK, Kievit, W, Nevens, F, Hogan, MC, Torres, VE, Gevers, TJ, Drenth, JP (2013) Evaluating health-related quality of life in patients with polycystic liver disease and determining the impact of symptoms and liver volume. Liver Int.
  83. Belibi, FA, Wallace, DP, Yamaguchi, T, Christensen, M, Reif, G, Grantham, JJ (2002) The effect of caffeine on renal epithelial cells from patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol 13: pp. 2723-2729 97/01.ASN.0000025282.48298.7B" target="_blank" title="It opens in new window">CrossRef
  84. Drenth, JP, Chrispijn, M, Nagorney, DM, Kamath, PS, Torres, VE (2010) Medical and surgical treatment options for polycystic liver disease. Hepatology 52: pp. 2223-2230 CrossRef
  85. Mudge, DW, Taylor, J, Bannister, KM (2005) Hepatic vein stenting for recurrent ascites in polycystic liver and kidney disease. Nephrol Dial Transplant 20: pp. 2566-2568 93/ndt/gfi051" target="_blank" title="It opens in new window">CrossRef
  86. Chrispijn, M, Nevens, F, Gevers, TJ, Vanslembrouck, R, Van Oijen, MG, Coudyzer, W, Hoffmann, AL, Dekker, HM, De Man, RA, Van Keimpema, L, Drenth, JP (2012) The long-term outcome of patients with polycystic liver disease treated with lanreotide. Aliment Pharmacol Ther 35: pp. 266-274 923.x" target="_blank" title="It opens in new window">CrossRef
  87. Hogan, MC, Masyuk, TV, Page, L, Holmes, DR, Li, X, Bergstralh, EJ, Irazabal, MV, Kim, B, King, BF, Glockner, JF, Larusso, NF, Torres, VE (2012) Somatostatin analog therapy for severe polycystic liver disease: results after 2聽years. Nephrol Dial Transplant 27: pp. 3532-3539 93/ndt/gfs152" target="_blank" title="It opens in new window">CrossRef
  88. Gevers, TJ, Inthout, J, Caroli, A, Ruggenenti, P, Hogan, MC, Torres, VE, Nevens, F, Drenth, JP (2013) Young women with polycystic liver disease respond best to somatostatin analogues: a pooled analysis of individual patient data. Gastroenterology 145: pp. 357-365 CrossRef
  
• 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Medicinal Chemistry;
• 出版者：BioMed Central
• ISSN：1750-1172

文摘

Polycystic liver disease (PLD) is the result of embryonic ductal plate malformation of the intrahepatic biliary tree. The phenotype consists of numerous cysts spread throughout the liver parenchyma. Cystic bile duct malformations originating from the peripheral biliary tree are called Von Meyenburg complexes (VMC). In these patients embryonic remnants develop into small hepatic cysts and usually remain silent during life. Symptomatic PLD occurs mainly in the context of isolated polycystic liver disease (PCLD) and autosomal dominant polycystic kidney disease (ADPKD). In advanced stages, PCLD and ADPKD patients have massively enlarged livers which cause a spectrum of clinical features and complications. Major complaints include abdominal pain, abdominal distension and atypical symptoms because of voluminous cysts resulting in compression of adjacent tissue or failure of the affected organ. Renal failure due to polycystic kidneys and non-renal extra-hepatic features are common in ADPKD in contrast to VMC and PCLD. In general, liver function remains prolonged preserved in PLD. Ultrasonography is the first instrument to assess liver phenotype. Indeed, PCLD and ADPKD diagnostic criteria rely on detection of hepatorenal cystogenesis, and secondly a positive family history compatible with an autosomal dominant inheritance pattern. Ambiguous imaging or screening may be assisted by genetic counseling and molecular diagnostics. Screening mutations of the genes causing PCLD (PRKCSH and SEC63) or ADPKD (PKD1 and PKD2) confirm the clinical diagnosis. Genetic studies showed that accumulation of somatic hits in cyst epithelium determine the rate-limiting step for cyst formation. Management of adult PLD is based on liver phenotype, severity of clinical features and quality of life. Conservative treatment is recommended for the majority of PLD patients. The primary aim is to halt cyst growth to allow abdominal decompression and ameliorate symptoms. Invasive procedures are required in a selective patient group with advanced PCLD, ADPKD or liver failure. Pharmacological therapy by somatostatin analogues lead to beneficial outcome of PLD in terms of symptom relief and liver volume reduction.