Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease

Clinical and Translational Science

Volumn 4, Issue 6, 2011, Pages 460-465

  Wen, Jessica ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Cirrhosis; Liver disease; Pediatrics

Indexed keywords

CYCLIC AMP; EPIDERMAL GROWTH FACTOR; MAMMALIAN TARGET OF RAPAMYCIN; MESSENGER RNA; PIOGLITAZONE; PROTEIN KINASE B;

APOPTOSIS; CALCIUM TRANSPORT; CAROLI DISEASE; CELL MIGRATION; CELL PROLIFERATION; CHROMOSOME 6Q; CLINICAL FEATURE; ELECTRON MICROSCOPE; EXON; GENE MUTATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; GLYCOSYLATION; HUMAN; HYPERTENSION; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; INTRON; KIDNEY CYST; KIDNEY POLYCYSTIC DISEASE; LIVER CELL; LIVER CYST; LIVER FIBROSIS; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROGNOSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; REVIEW; SURVIVAL;

ANIMALS; CALCIUM; CAROLI DISEASE; CYCLIC AMP; DISEASE MODELS, ANIMAL; EXONS; HUMANS; LIVER; LIVER CIRRHOSIS; MICE; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; RATS; RATS, SPRAGUE-DAWLEY; TRANSLATIONAL MEDICAL RESEARCH;

EID: 84855187939     PISSN: 17528054     EISSN: 17528062     Source Type: Journal    
DOI: 10.1111/j.1752-8062.2011.00306.x     Document Type: Review

References (83)

1. Dias NF, Lanzarini V, Onuchic LF, Koch VH. Clinical aspects of autosomal recessive polycystic kidney disease. J Bras Nefrol. 2010; 32(3): 263-267.
2. Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 2003; 111(5 Pt 1): 1072-1080.
3. Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, et al. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab. 2010; 99(2): 160-173.
4. Zerres K, Mucher G, Becker J, Steinkamm C, Rudnik-Schoneborn S, Heikkila P, Rapola J, Salonen R, Germino GG, Onuchic L, et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet. 1998; 76(2): 137-144.
5. Zerres K, Rudnik-Schoneborn S, Steinkamm C, Becker J, Mucher G. Autosomal recessive polycystic kidney disease. J Mol Med. 1998; 76(5): 303-309.
6. Fonck C, Chauveau D, Gagnadoux MF, Pirson Y, Grunfeld JP. Autosomal recessive polycystic kidney disease in adulthood. Nephrol Dial Transplant. 2001; 16(8): 1648-1652.
7. Turkbey B, Ocak I, Daryanani K, Font-Montgomery E, Lukose L, Bryant J, Tuchman M, Mohan P, Heller T, Gahl WA, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol. 2009; 39(2): 100-111.
8. Torres VE, Harris PC. Mechanisms of disease: autosomal dominant and recessive polycystic kidney diseases. Nat Clin Pract Nephrol. 2006; 2(1): 40-55; quiz55.
9. Kanaheswari Y, Hamzaini AH, Wong SW. Congenital hepatic fibrosis in a child with autosomal dominant polycystic kidney disease. Med J Malaysia. 2008; 63(3): 251-253.
10. Lipschitz B, Berdon WE, Defelice AR, Levy J. Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease. Report of a family with review of literature. Pediatr Radiol. 1993; 23(2): 131-133.
11. Cobben JM, Breuning MH, Schoots C, ten Kate LP, Zerres K. Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease. Kidney Int. 1990; 38(5): 880-885.
12. Misra A, Loyalka P, Alva F. Portal hypertension due to extensive hepatic cysts in autosomal dominant polycystic kidney disease. South Med J. 1999; 92(6): 626-627.
13. Lemaigre FP. Development of the biliary tract. Mech Dev. 2003; 120(1): 81-87.
14. Desmet VJ. Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation". Hepatology. 1992; 16(4): 1069-1083.
15. Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R et al. 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. 2002; 70(5): 1305-1317.
16. Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002; 30(3): 259-269.
17. Bergmann C, Frank V, Kupper F, Schmidt C, Senderek J, Zerres K. Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease. J Hum Genet. 2006; 51(9): 788-793.
18. Zhang MZ, Mai W, Li C, Cho SY, Hao C, Moeckel G, Zhao, R, Kim, I, Wang J, Xiong H, et al. PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Proc Natl Acad Sci USA. 2004; 101(8): 2311-2316.
19. Garcia-Gonzalez MA, Menezes LF, Piontek KB, Kaimori J, Huso DL, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG. Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Hum Mol Genet. 2007; 16(16): 1940-1950.
20. Mai W, Chen D, Ding T, Kim I, Park S, Cho SY, Chu JS, Liang D, Wang N, Wu D et al. Inhibition of Pkhd1 impairs tubulomorphogenesis of cultured IMCD cells. Mol Biol Cell. 2005; 16(9): 4398-4409.
21. Kaimori JY, Nagasawa Y, Menezes LF, Garcia-Gonzalez MA, Deng J, Imai E, Onuchic LF, Guay-Woodford LM, Germino GG. Polyductin undergoes notch-like processing and regulated release from primary cilia. Hum Mol Genet. 2007; 16(8): 942-956.
22. Hiesberger T, Gourley E, Erickson A, Koulen P, Ward CJ, Masyuk TV, Larusso NF, Harris PC, Igarashi P. Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase C. J Biol Chem. 2006; 281(45): 34357-34364.
23. Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, -Avner E, Zerres K, et al. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. J Am Soc Nephrol. 2003; 14(8): 2004-2014.
24. Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schoneborn, S, Furu L, Onuchic LF, De Baca M et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol. 2003; 14(1): 76-89.
25. Hildebrandt F, Otto E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?Nat Rev Genet. 2005; 6(12): 928-940.
26. Veland IR, Awan A, Pedersen LB, Yoder BK, Christensen ST. Primary cilia and signaling pathways in mammalian development, health and disease. Nephron Physiol. 2009; 111(3): 39-53.
27. Harris PC, Torres VE. Polycystic kidney disease. Annu Rev Med. 2009; 60: 321-337.
28. Kolb RJ, Nauli SM. Ciliary dysfunction in polycystic kidney disease: an emerging model with polarizing potential. Front Biosci. 2008; 13: 4451-4466.
29. Masyuk TV, Huang BQ, Ward CJ, Masyuk AI, Yuan D, Splinter PL, Punyashthiti R, Ritman EL, Torres VE, Harris PC, et al. Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. Gastroenterology. 2003; 125(5): 1303-1310.
30. Masyuk TV, Huang BQ, Masyuk AI, Ritman EL, Torres VE, Wang X, Harris PC, Larusso NF. Biliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney disease. Am J Pathol. 2004; 165(5): 1719-1730.
31. Sanzen T, Harada K, Yasoshima M, Kawamura Y, Ishibashi M, Nakanuma Y. Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. Am J Pathol. 2001; 158(5): 1605-1612.
32. Katsuyama M, Masuyama T, Komura I, Hibino T, Takahashi H. Characterization of a novel polycystic kidney rat model with accompanying polycystic liver. Exp Anim. 2000; 49(1): 51-55.
33. Nagasawa Y, Matthiesen S, Onuchic LF, Hou X, Bergmann C, Esquivel E, Senderek J, Ren Z, Zeltner R, Furu L, et al. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. J Am Soc Nephrol. 2002; 13(9): 2246-2258.
34. Woollard JR, Punyashtiti R, Richardson S, Masyuk TV, Whelan S, Huang BQ, Lager DJ, vanDeursen J, Torres VE, Gattone VH, et al. A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation. Kidney Int. 2007; 72(3): 328-336.
35. Gallagher AR, Esquivel EL, Briere TS, Tian X, Mitobe M, Menezes LF, Markowitz GS, Jain D, Onuchic LF, Somlo S. Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. Am J Pathol. 2008; 172(2): 417-429.
36. Guay-Woodford LM. Murine models of polycystic kidney disease: molecular and therapeutic insights. Am J Physiol Renal Physiol. 2003; 285(6): F1034-F1049.
37. Guay-Woodford LM, Bryda EC, Christine B, Lindsey JR, Collier WR, Avner ED, D'Eustachio P, Flaherty L. Evidence that two phenotypically distinct mouse PKD mutations, bpk and jcpk, are allelic. Kidney Int. 1996; 50(4): 1158-1165.
38. Ibraghimov-Beskrovnaya O, Bukanov N. Polycystic kidney diseases: from molecular discoveries to targeted therapeutic strategies. Cell Mol Life Sci. 2008; 65(4): 605-619.
39. Woo D. Apoptosis and loss of renal tissue in polycystic kidney diseases. N Engl J Med. 1995; 333(1): 18-25.
40. Praetorius HA, Spring KR. Bending the MDCK cell primary cilium increases intracellular calcium. J Membr Biol. 2001; 184(1): 71-79.
41. Masyuk AI, Masyuk TV, Splinter PL, Huang BQ, Stroope AJ, LaRusso NF. Cholangiocyte cilia detect changes in luminal fluid flow and transmit them into intracellular Ca2+ and cAMP signaling. Gastroenterology. 2006; 131(3): 911-920.
42. Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AE, Lu W, Brown EM, Quinn SJ, et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet. 2003; 33(2): 129-137.
43. Banales JM, Masyuk TV, Gradilone SA, Masyuk AI, Medina JF, LaRusso NF. The cAMP effectors Epac and protein kinase a (PKA) are involved in the hepatic cystogenesis of an animal model of autosomal recessive polycystic kidney disease (ARPKD). Hepatology. 2009; 49(1): 160-174.
44. Gradilone SA, Masyuk AI, Splinter PL, Banales JM, Huang BQ, Tietz PS, Masyuk TV, Larusso NF. Cholangiocyte cilia express TRPV4 and detect changes in luminal tonicity inducing bicarbonate secretion. Proc Natl Acad Sci USA. 2007; 104(48): 19138-19143.
45. Gradilone SA, Masyuk TV, Huang BQ, Banales JM, Lehmann GL, Radtke BN, Stroope A, Masyuk AI, Splinter PL, LaRusso NF Activation of Trpv4 reduces the hyperproliferative phenotype of cystic cholangiocytes from an animal model of ARPKD. Gastroenterology. 2010; 139(1): 304-314, e2.
46. Masyuk TV, Masyuk AI, Torres VE, Harris PC, Larusso NF. Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 39, 59-cyclic monophosphate. Gastroenterology. 2007; 132(3): 1104-1116.
47. Wang X, Gattone V 2nd, Harris PC, Torres VE. Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat. J Am Soc Nephrol. 2005; 16(4): 846-851.
48. Sato Y, Harada K, Furubo S, Kizawa K, Sanzen T, Yasoshima M, Ozaki S, Isse K, Sasaki M, Nakanuma Y. Inhibition of intrahepatic bile duct dilation of the polycystic kidney rat with a novel tyrosine kinase inhibitor gefitinib. Am J Pathol. 2006; 169(4): 1238-1250.
49. Nauta J, Sweeney WE, Rutledge JC, Avner ED. Biliary epithelial cells from mice with congenital polycystic kidney disease are hyperresponsive to epidermal growth factor. Pediatr Res. 1995; 37(6): 755-763.
50. Sato Y, Harada K, Kizawa K, Sanzen T, Furubo S, Yasoshima M, Ozaki S, Ishibashi M, Nakanuma Y. Activation of the MEK5/ERK5 cascade is responsible for biliary dysgenesis in a rat model of Caroli's disease. Am J Pathol. 2005; 166(1): 49-60.
51. Mostov KE. mTOR is out of control in polycystic kidney disease. Proc Natl Acad Sci USA. 2006; 103(14): 5247-5248.
52. Shillingford JM, Murcia NS, Larson CH, Low SH, Hedgepeth R, Brown N, Flask CA, Novick AC, Goldfarb DA, Kramer-Zucker A, et al. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci USA. 2006; 103(14): 5466-5471.
53. Zafar I, Ravichandran K, Belibi FA, Doctor RB, Edelstein CL. Sirolimus attenuates disease progression in an orthologous mouse model of human autosomal dominant polycystic kidney disease. Kidney Int. 2010; 78(8): 754-761.
54. Wuthrich RP, Kistler AD, Serra AL. Impact of Mammalian target of rapamycin inhibition on autosomal-dominant polycystic kidney disease. Transplant Proc. 2010; 42(9 Suppl): S44-S46.
55. Belibi F, Ravichandran K, Zafar I, He Z, Edelstein CL. mTORC1/2 and rapamycin in female Han: SPRD rats with polycystic kidney disease. Am J Physiol Renal Physiol. 2011; 300(1): F236-F244.
56. Shillingford JM, Piontek KB, Germino GG, Weimbs T. Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1. J Am Soc Nephrol. 2010; 21(3): 489-497.
57. Spirli C, Okolicsanyi S, Fiorotto R, Fabris L, Cadamuro M, Lecchi S, Tian X, Somlo S, Strazzabosco M. Mammalian target of rapamycin regulates vascular endothelial growth factor-dependent liver cyst growth in polycystin-2-defective mice. Hepatology. 2010; 51(5): 1778-1788.
58. Qian Q, Du H, King BF, Kumar S, Dean PG, Cosio FG, Torres VE. Sirolimus reduces polycystic liver volume in ADPKD patients. J Am Soc Nephrol. 2008; 19(3): 631-638.
59. Serra AL, Poster D, Kistler AD, Krauer F, Raina S, Young J, Rentsch KM, Spanaus KS, Senn O, Kristanto P, et al. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. N Engl J Med. 2010; 363(9): 820-829.
60. Walz G, Budde K, Mannaa M, Nurnberger J, Wanner C, Sommerer C, Kunzendorf U, Banas B, Horl WH, Obermuller N, et al. Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2010; 363(9): 830-840.
61. Fischer DC, Jacoby U, Pape L, Ward CJ, Kuwertz-Broeking E, Renken C, Nizze H, Querfeld U, Rudolph B, Mueller-Wiefel DE, et al. Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD). Nephrol Dial Transplant. 2009; 24(6): 1819-1827.
62. Renken C, Fischer DC, Kundt G, Gretz N, Haffner D. Inhibition of mTOR with sirolimus does not attenuate progression of liver and kidney disease in PCK rats. Nephrol Dial Transplant. 2011; 26(1): 92-100.
63. Paizis G, Cooper ME, Schembri JM, Tikellis C, Burrell LM, Angus PW. Up-regulation of components of the renin-angiotensin system in the bile duct-ligated rat liver. Gastroenterology. 2002; 123(5): 1667-1676.
64. Bataller R, Gabele E, Parsons CJ, Morris T, Yang L, Schoonhoven R, Brenner DA, Rippe RA. Systemic infusion of angiotensin II exacerbates liver fibrosis in bile duct-ligated rats. Hepatology. 2005; 41(5): 1046-1055.
65. Moreno M, Bataller R. Cytokines and renin-angiotensin system signaling in hepatic fibrosis. Clin Liver Dis. 2008; 12(4): 825-852, ix.
66. Yang L, Bataller R, Dulyx J, Coffman TM, Gines P, Rippe RA, Brenner DA. Attenuated hepatic inflammation and fibrosis in angiotensin type 1a receptor deficient mice. J Hepatol. 2005; 43(2): 317-323.
67. Bataller R, Brenner DA. Liver fibrosis. J Clin Invest. 2005; 115(2): 209-218.
68. Goto M, Hoxha N, Osman R, Dell KM. The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2010; 25(12): 2449-2457.
69. Loghman-Adham M, Soto CE, Inagami T, Sotelo-Avila C. Expression of components of the renin-angiotensin system in autosomal recessive polycystic kidney disease. J Histochem Cytochem. 2005; 53(8): 979-988.
70. Goto M, Hoxha N, Osman R, Wen J, Wells RG, Dell KM. Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease. J Pediatr Gastroenterol Nutr. 2010; 50(6): 639-644.
71. Jia G, Kwon M, Liang HL, Mortensen J, Nilakantan V, Sweeney WE, Park F. Chronic treatment with lisinopril decreases proliferative and apoptotic pathways in autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2010; 25(6): 1139-1146.
72. Yoshihara D, Kurahashi H, Morita M, Kugita M, Hiki Y, Aukema HM, Yamaguchi T, Calvet JP, Wallace DP, Nagao S. PPAR-{gamma} agonist ameliorates kidney and liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease. Am J Physiol Renal Physiol. 2011; 300(2): 465-474.
73. Hamblin M, Chang L, Fan Y, Zhang J, Chen YE. PPARs and the cardiovascular system. Antioxid Redox Signal. 2009; 11(6): 1415-1452.
74. Yamamoto Y, Ono T, Dhar DK, Yamanoi A, Tachibana M, Tanaka T, Nagasue N. Role of peroxisome proliferator-activated receptor-gamma (PPARgamma) during liver regeneration in rats. J Gastroenterol Hepatol. 2008; 23(6): 930-937.
75. Kawai T, Masaki T, Doi S, Arakawa T, Yokoyama Y, Doi T, Kohno N, Yorioka N. PPAR-gamma agonist attenuates renal interstitial fibrosis and inflammation through reduction of TGF-beta. Lab Invest. 2009; 89(1): 47-58.
76. Sedlaczek N, Jia JD, Bauer M, Herbst H, Ruehl M, Hahn EG, Schuppan D. Proliferating bile duct epithelial cells are a major source of connective tissue growth factor in rat biliary fibrosis. Am J Pathol. 2001; 158(4): 1239-1244.
77. Ozaki S, Sato Y, Yasoshima M, Harada K, Nakanuma Y. Diffuse expression of heparan sulfate proteoglycan and connective tissue growth factor in fibrous septa with many mast cells relate to unresolving hepatic fibrosis of congenital hepatic fibrosis. Liver Int. 2005; 25(4): 817-828.
78. Brenner DA. Molecular pathogenesis of liver fibrosis. Trans Am Clin Climatol Assoc. 2009; 120: 361-368.
79. Friedman SL. Evolving challenges in hepatic fibrosis. Nat Rev Gastroenterol Hepatol. 2010; 7(8): 425-436.
80. Dranoff JA, Wells RG. Portal fibroblasts: underappreciated mediators of biliary fibrosis. Hepatology. 2010; 51(4): 1438-1444.
81. Beaussier M, Wendum D, Schiffer E, Dumont S, Rey C, Lienhart A, Housset C. Prominent contribution of portal mesenchymal cells to liver fibrosis in ischemic and obstructive cholestatic injuries. Lab Invest. 2007; 87(3): 292-303.
82. Kruglov EA, Nathanson RA, Nguyen T, Dranoff JA. Secretion of MCP-1/CCL2 by bile duct epithelia induces myofibroblastic transdifferentiation of portal fibroblasts. Am J Physiol Gastrointest Liver Physiol. 2006; 290(4): G765-G771.
83. Baghdasaryan A, Claudel T, Kosters A, Gumhold J, Silbert D, Thuringer A, Leski K, Fickert P, Karpen SJ, Trauner M. Curcumin improves sclerosing cholangitis in Mdr2-/- mice by inhibition of cholangiocyte inflammatory response and portal myofibroblast proliferation. Gut. 2010; 59(4): 521-530.