Congenital fibrocystic liver diseases

Best Practice and Research: Clinical Gastroenterology

Volumn 24, Issue 5, 2010, Pages 573-584

  Drenth, Joost P H ^a   Chrispijn, Melissa ^a   Bergmann, Carsten ^b,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c Bioscientia Center for Human Genetics   (Germany)

Author keywords

Autosomal dominant polycystic kidney disease (ADPKD); Autosomal dominant polycystic liver disease (PCLD); Autosomal recessive polycystic kidney disease (ARPKD); Bardet Biedl syndrome; BBS; Biliary hamartoma; Caroli's disease; Choledochal cysts; Cilia; Ciliopathies; Congenital hepatic fibrosis; Ductal plate malformation; Early and severe disease manifestation; Fibrocystic diseases; JBTS; Jeune syndrome; Joubert syndrome; Meckel Gruber syndrome; MKS; Peribiliary cysts; PKD1; PKD2; PKHD1; PRKCSH; SEC63; Variable disease expression; von Meyenburg complexes

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE; BARDET BIEDL SYNDROME; CAROLI DISEASE; COMMON BILE DUCT CYST; CONGENITAL DISORDER; DIAGNOSTIC ACCURACY; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; FIBROCYSTIC LIVER DISEASE; HAMARTOMA; HUMAN; JOUBERT SYNDROME; KIDNEY FAILURE; LIVER POLYCYSTIC DISEASE; MECKEL SYNDROME; REVIEW;

EID: 77958093240     PISSN: 15216918     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bpg.2010.08.007     Document Type: Article

References (85)

1. V.J. Desmet Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation" Hepatology 16 1992 1069 1083
2. K.J. Mortele, and P.R. Ros Cystic focal liver lesions in the adult: differential CT and MR imaging features Radiographics 21 2001 895 910
3. K.T. Bae, F. Zhu, A.B. Chapman, V.E. Torres, J.J. Grantham, and L.M. Guay-Woodford 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 2006 64 69
4. L. van Keimpema, D.B. de Koning, B. van Hoek, A. van den Berg, M.G. van Oijen, and R.A. de Man Patients with isolated polycystic liver disease referred to liver centres:clinical characterization of 137 cases Liver Int 2010 10.1111/j.1478-3231.2010.02247.x
5. V.J. Desmet Ludwig symposium on biliary disorders-part I. Pathogenesis of ductal plate abnormalities Mayo Clin Proc 73 1998 80 89
6. C.J. Harvey, and T. Albrecht Ultrasound of focal liver lesions Eur Radiol 11 2001 1578 1593
7. G. Brancatelli, M.P. Federle, V. Vilgrain, M.P. Vullierme, D. Marin, and R. Lagalla Fibropolycystic liver disease: CT and MR imaging findings Radiographics 25 2005 659 670
8. Hv Meyenburg Über die Cystenleber Beitr Pathol Anat 64 1918 477 531
9. R.Q. Zheng, B. Zhang, M. Kudo, H. Onda, and T. Inoue Imaging findings of biliary hamartomas World J Gastroenterol 11 2005 6354 6359
10. M.S. Redston, and I.R. Wanless The hepatic von Meyenburg complex: prevalence and association with hepatic and renal cysts among 2843 autopsies Mod Pathol 9 1996 233 237
11. C. Tohmé-Noun, D. Cazals, R. Noun, L. Menassa, D. Valla, and V. Vilgrain Multiple biliary hamartomas: magnetic resonance features with histopathologic correlation Eur Radiol 18 2008 493 499
12. J. Singham, E.M. Yoshida, and C.H. Scudamore Choledochal cysts: part 1 of 3: classification and pathogenesis Can J Surg 52 2009 434 440
13. J. Singham, E.M. Yoshida, and C.H. Scudamore Choledochal cysts: part 2 of 3: diagnosis Can J Surg 52 2009 506 511
14. H. Bismuth, and J. Krissat Choledochal cystic malignancies Ann Oncol 4 10 Suppl 1999 S94 S98
15. M.L. Kendrick, and D.M. Nagorney Bile duct cysts: contemporary surgical management Curr Opin Gastroenterol 25 2009 240 244
16. T. Todani, Y. Watanabe, M. Narusue, K. Tabuchi, and K. Okajima Congenital bile duct cysts: classification, operative procedures, and review of thirty-seven cases including cancer arising from choledochal cyst Am J Surg 134 1977 263 269
17. T. Seguchi, Y. Akiyama, H. Itoh, H. Tanaka, S. Naganuma, and K. Nagaike Multiple hepatic peribiliary cysts with cirrhosis J Gastroenterol 39 2004 384 390
18. T. Terada, and Y. Nakanuma Pathological observations of intrahepatic peribiliary glands in 1,000 consecutive autopsy livers. III. Survey of necroinflammation and cystic dilatation Hepatology 12 1990 1229 1233
19. Y. Nakanuma, M. Sasaki, T. Terada, and K. Harada Intrahepatic peribiliary glands of humans. II. Pathological spectrum J Gastroenterol Hepatol 9 1994 80 86
20. G. Brancatelli, M.P. Federle, R. Ambrosini, R. Lagalla, A. Carriero, and M. Midiri Cirrhosis: CT and MR imaging evaluation Eur J Radiol 61 2007 57 69
21. W. Stevens, W. Harford, and E. Lee Obstructive jaundice due to multiple hepatic peribiliary cysts Am J Gastroenterol 91 1996 155 157
22. D. Mathieu, V. Vilgrain, A.E. Mahfouz, M.C. Anglade, M.P. Vullierme, and A. Denys Benign liver tumors Magn Reson Imaging Clin N Am 5 1997 255 288
23. J. Cheung, C.H. Scudamore, and E.M. Yoshida Management of polycystic liver disease Can J Gastroenterol 18 2004 666 670
24. P.J. Karhunen, and M. Tenhu Adult polycystic liver and kidney diseases are separate entities Clin Genet 30 1986 29 37
25. M.W. Comfort, H.K. Gray, D.C. Dahlin, and F.B. Whitesell Jr. Polycystic disease of the liver: a study of 24 cases Gastroenterology 20 1952 60 78
26. E.A. Sotaniemi, P.V. Luoma, P.M. Jarvensivu, and K.A. Sotaniemi Impairment of drug metabolism in polycystic non-parasitic liver disease Br J Clin Pharmacol 8 1979 331 335
27. G. Berrebi, R.P. Erickson, and B.W. Marks Autosomal dominant polycystic liver disease: a second family Clin Genet 21 1982 342 347
28. Y. Pirson, N. Lannoy, D. Peters, A. Geubel, J.F. Gigot, and M. Breuning Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2 Hepatology 23 1996 249 252
29. D.M. Iglesias, J.A. Palmitano, E. Arrizurieta, A.R. Kornblihtt, M. Herrera, and V. Bernath Isolated polycystic liver disease not linked to polycystic kidney disease 1 and 2 Dig Dis Sci 44 1999 385 388
30. R. Norio Polycystic disease of liver: an entity of its own or not? Clin Genet 23 1983 78 79
31. P.J. Melnick Polycystic liver; analysis of seventy cases AMA Arch Pathol 59 1955 162 172
32. J.P. Drenth, R.H. te Morsche, R. Smink, J.S. Bonifacino, and J.B. Jansen Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease Nat Genet 33 2003 345 347
33. S. Davila, L. Furu, A.G. Gharavi, X. Tian, T. Onoe, and Q. Qian Mutations in SEC63 cause autosomal dominant polycystic liver disease Nat Genet 36 2004 575 577 (Pubitemid 38715981)
34. C. D'Alessio, F. Fernandez, E.S. Trombetta, and A.J. Parodi Genetic evidence for the heterodimeric structure of glucosidase II. The effect of disrupting the subunit-encoding genes on glycoprotein folding J Biol Chem 274 1999 25899 25905
35. C.M. Cabral, Y. Liu, and R.N. Sifers Dissecting glycoprotein quality control in the secretory pathway Trends Biochem Sci 26 2001 619 624
36. E.S. Trombetta, and A.J. Parodi Quality control and protein folding in the secretory pathway Annu Rev Cell Dev Biol 19 2003 649 676
37. E.S. Trombetta, K.G. Fleming, and A. Helenius Quaternary domain structure glycoprotein processing glucosidase Biochem 40 2001 10717 10722
38. J.P. Drenth, J.A. Martina, R.H. te Morsche, J.B. Jansen, and J.S. Bonifacino Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease Gastroenterology 126 2004 1819 1827
39. D.J. Schnell, and D.N. Hebert Protein translocons: multifunctional mediators of protein translocation across membranes Cell 112 2003 491 505
40. M.H. Skowronek, M. Rotter, and I.G. Haas Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog Biol Chem 380 1999 1133 1138
41. B.P. Young, R.A. Craven, P.J. Reid, M. Willer, and C.J. Stirling Sec63p and Kar2p are required for the translocation of SRP-dependent precursors into the yeast endoplasmic reticulum in vivo EMBO J 20 2001 262 271
42. J.P. Drenth, J.A. Martina, R. van de Kerkhof, J.S. Bonifacino, and J.B. Jansen Polycystic liver disease is a disorder of cotranslational protein processing Trends Mol Med 11 2005 37 42
43. L. van Keimpema, D.B. de Koning, S.P. Strijk, and J.P. Drenth Aspiration-sclerotherapy results in effective control of liver volume in patients with liver cysts Dig Dis Sci 53 2008 2251 2257
44. L. van Keimpema, J.P. Ruurda, M.F. Ernst, H.J. van Geffen, and J.P. Drenth Laparoscopic fenestration of liver cysts in polycystic liver disease results in a median volume reduction of 12.5% J Gastrointest Surg 12 2008 477 482
45. R.T. Russell, and C.W. Pinson Surgical management of polycystic liver disease World J Gastroenterol 13 2007 5052 5059
46. H.L. Arnold, and S.A. Harrison New advances in evaluation and management of patients with polycystic liver disease Am J Gastroenterol 100 2005 2569 2582
47. M. Hogan, T.V. Masyuk, B. Kim, B.F. King, E. Bergstralh, and X. Li A Pilot study of long-Acting octreotide (Octreotide LAR Depot) in the treatment of patients with severe polycystic liver disease J Am Soc Nephrol 21 2010 1052 1061
48. L. van Keimpema, F. Nevens, R. Vanslembrouck, M.G. van Oijen, A.L. Hoffmann, and H.M. Dekker Lanreotide reduces the volume of polycystic liver: a randomized, double-blind, placebo-controlled trial Gastroenterology 137 2009 1661 1668
49. A. Caroli, L. Antiga, M. Cafaro, G. Fasolini, A. Remuzzi, and G. Remuzzi Reducing polycystic liver volume in ADPKD: Effects of somatostatin analogue octreotide Clin J Am Soc Nephrol 5 2010 783 789
50. P.C. Harris, and V.E. Torres Polycystic kidney disease Annu Rev Med 60 2009 321 337
51. V.E. Torres, and P.C. Harris Autosomal dominant polycystic kidney disease: the last 3 years Kidney Int 76 2009 149 168
52. D. Ravine, R.N. Gibson, R.G. Walker, L.J. Sheffield, P. Kincaid-Smith, and D.M. Danks Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1 Lancet 343 1994 824 827
53. V.E. Torres, P.C. Harris, and Y. Pirson Autosomal dominant polycystic kidney disease Lancet 369 2007 1287 1301
54. J.J. Grantham, V.E. Torres, A.B. Chapman, L.M. Guay-Woodford, K.T. Bae, and B.F. King Jr. Volume progression in polycystic kidney disease N Engl J Med 354 2006 2122 2130
55. P.A. Gabow, A.M. Johnson, W.D. Kaehny, W.J. Kimberling, D.C. Lezotte, and I.T. Duley Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease Kidney Int 41 1992 1311 1319
56. A.M. Johnson, and P.A. Gabow Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease J Am Soc Nephrol 8 1997 1560 1567
57. R. Sherstha, C. McKinley, P. Russ, A. Scherzinger, T. Bronner, and R. Showalter Postmenopausal estrogen therapy selectively stimulates hepatic enlargement in women with autosomal dominant polycystic kidney disease Hepatology 26 1997 1282 1286
58. P.A. Gabow, A.M. Johnson, W.D. Kaehny, M.L. Manco-Johnson, I.T. Duley, and G.T. Everson Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease Hepatology 11 1990 1033 1037
59. D. Alvaro, M.G. Mancino, P. Onori, A. Franchitto, G. Alpini, and H. Francis Estrogens and the pathophysiology of the biliary tree World J Gastroenterol 12 2006 3537 3545
60. R. Torra, J. Sarquella, J. Calabia, J. Marti, E. Ars, and P. Fernandez-Llama Prevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney disease Clin J Am Soc Nephrol 3 2008 790 793
61. W.I. Schievink, D. Palestrant, M.M. Maya, and G. Rappard Spontaneous spinal cerebrospinal fluid leak as a cause of coma after craniotomy for clipping of an unruptured intracranial aneurysm J Neurosurg 110 2009 521 524
62. S. Kumar, M. Adeva, B.F. King, P.S. Kamath, and V.E. Torres Duodenal diverticulosis in autosomal dominant polycystic kidney disease Nephrol Dial Transplant 21 2006 3576 3578
63. W.I. Schievink, J. Huston III, V.E. Torres, and W.R. Marsh Intracranial cysts in autosomal dominant polycystic kidney disease J Neurosurg 83 1995 1004 1007
64. K.F. Hossack, C.L. Leddy, A.M. Johnson, R.W. Schrier, and P.A. Gabow Echocardiographic findings in autosomal dominant polycystic kidney disease N Engl J Med 319 1988 907 912
65. F.A. Belibi, G. Reif, D.P. Wallace, T. Yamaguchi, L. Olsen, and H. Li Cyclic AMP promotes growth and secretion in human polycystic kidney epithelial cells Kidney Int 66 2004 964 973
66. J.M. Shillingford, N.S. Murcia, C.H. Larson, S.H. Low, R. Hedgepeth, and N. Brown The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease Proc Natl Acad Sci U S A 103 2006 5466 5471
67. G. Walz, K. Budde, M. Mannaa, J. Nurnberger, C. Wanner, and C. Sommerer Everolimus in patients with autosomal dominant polycystic kidney disease N Engl J Med 363 2010 830 840
68. A.L. Serra, D. Poster, A.D. Kistler, F. Krauer, S. Raina, and J. Young In autosomal dominant polycystic kidney disease N Engl J Med 363 2010 820 829
69. C.J. Ward, M.C. Hogan, S. Rossetti, D. Walker, T. Sneddon, and X. Wang The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein Nat Genet 30 2002 259 269
70. L.F. Onuchic, L. Furu, Y. Nagasawa, X. Hou, T. Eggermann, and Z. Ren PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple Immunoglobulin-like Plexin-Transcription-Factor domains and Parallel Beta-Helix 1 Repeats Am J Hum Genet 70 2002 1305 1317
71. C. Bergmann, F. Küpper, C. Dornia, F. Schneider, J. Senderek, and K. Zerres Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD) Hum Mutat 25 2005 225 231
72. L.M. Guay-Woodford Autosomal recessive polycystic kidney disease: clinical and genetic profiles M.L. Watson, V.E. Torres, Polycystic kidney disease 1996 Oxford University Press Oxford p 237-266
73. M. Adeva, M. El-Youssef, S. Rossetti, P.S. Kamath, V. Kubly, and M.B. Consugar Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD) Medicine (Baltimore) 85 1 2006 1 21
74. C. Bergmann, J. Senderek, E. Windelen, F. Küpper, I. Middeldorf, and F. Schneider Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD) Kidney Int 67 2005 829 848
75. B. Turkbey, I. Ocak, K. Daryanani, E. Font-Montgomery, L. Lukose, and J. Bryant Autosomal Recessive Polycystic Kidney Disease Congenital Hepatic Fibrosis (ARPKD/CHF) Pediatr Radiol 39 2009 100 111
76. L.M. Guay-Woodford, and R.A. Desmond Autosomal recessive polycystic kidney disease: the clinical experience in North America Pediatrics 111 2003 1072 1080
77. C. Bergmann, J. Senderek, F. Küpper, F. Schneider, C. Dornia, and E. Windelen PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) Hum Mutat 23 2004 453 463
78. C.E. Kashtan, W.A. Primack, G. Kainer, A.R. Rosenberg, R.A. McDonald, and B.A. Warady Recurrent bacteremia with enteric pathogens in recessive polycystic kidney disease Pediatr Nephrol 13 1999 678 682
79. M. Moser, S. Matthiesen, J. Kirfel, H. Schorle, C. Bergmann, and J. Senderek A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD) Hepatology 41 2005 1113 1121
80. S.C. Goetz, and K.V. Anderson The Primary Cilium a Signalling Centre During Vertebrate Development Nat Rev Genet 11 5 2010 May 331 344
81. M. Fliegauf, T. Benzing, and H. Omran When cilia go bad: cilia defects and ciliopathies Nat Rev Mol Cell Biol 8 11 2007 Nov 880 893
82. E.A. Nigg, and J.W. Raff Centrioles, Centrosomes, and Cilia in Health and Disease Cell 139 4 2009 Nov 13 663 678
83. K. Baker, and P.L. Beales Making sense of cilia in disease: the human ciliopathies Am J Med Genet C Semin Med Genet 151C 4 2009 Nov 15 281 295
84. N.A. Zaghloul, and N. Katsanis Functional modules, mutational load and human genetic disease Trends Genet 26 4 2010 Apr 168 176
85. F. Hildebrandt, and E. Otto Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet 6 2005 928 940