Advances in management of polycystic liver disease

References

• Baert L. Hereditary polycystic kidney disease (adult form): a microdissection study of two cases at an early stage of the disease. Kidney Int.13, 519–525 (1978).
   PubMed Web of Science ®Google Scholar
• Qian F, Watnick TJ, Onuchic LF, Germino GG. The molecular basis of focal cyst formation in human ADPKD type I. Cell87, 979–987 (1996).
   PubMed Web of Science ®Google Scholar
• Wu G, D’Agati V, Cai Y et al. Somatic inactivation of Pkd2 results polycystic kidney disease. Cell93, 177–188 (1998).
   PubMed Web of Science ®Google Scholar
• Colgin LM, Hackmann AFM, Emond MJ, Monnat RJJ. The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage. Proc. Natl Acad. Sci. USA99, 1437–1442 (2002).
   PubMed Web of Science ®Google Scholar
• Gabow PA, Johnson AM, Kaehny WD, Manco-Johnson ML, Duley IT, Everson GT. Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease. Hepatology11, 1033–1037 (1990).
   PubMed Web of Science ®Google Scholar
• Everson GT. Hepatic cysts in autosomal dominant polycystic kidney disease. Am. J. Kidney Dis.22, 520–525 (1993).
   PubMed Web of Science ®Google Scholar
• Everson G. Hepatic cysts in ADPKD. Mayo Clin. Proc.65, 1020–1025 (1990).
   PubMed Web of Science ®Google Scholar
• Fick GM, Gabow PA. Hereditary and acquired cystic disease of the kidney. Kidney Int.46, 951–964 (1994).
   PubMed Web of Science ®Google Scholar
• Hateboer N, van Dijk MA, Bogdanova M. Comparison of phenotypes of PKD types 1 and 2. European PKD1-PKD2 Study Group. Lancet353, 103–107 (1999).
   PubMed Web of Science ®Google Scholar
• Reeders ST, Breuning MH, Davies KE et al. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature317, 542–544 (1985).
   PubMed Web of Science ®Google Scholar
• 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. USA93, 1524–1528 (1996).
   PubMed Web of Science ®Google Scholar
• Consortium IP. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell81, 289–298 (1995).
   PubMedGoogle Scholar
• Hughes J, Ward CJ, Peral B et al. The polycystic kidney disease I (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat. Genet.10, 151–159 (1995).
   PubMed Web of Science ®Google Scholar
• Rossetti S, Strmecki L, Gamble V et al. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am. J. Hum. Genet.68, 46–63 (2001).
   PubMed Web of Science ®Google Scholar
• 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.65, 1561–1571 (1999).
   PubMed Web of Science ®Google Scholar
• 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. Lancet361, 2196–2201 (2003).
   PubMed Web of Science ®Google Scholar
• 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.13, 1230–1237 (2002).
   PubMed Web of Science ®Google Scholar
• Gabow PA. Autosomal dominant polycystic kidney disease. N. Engl. J. Med.329, 332–342 (1993).
   PubMed Web of Science ®Google Scholar
• Mochizuki T, Wu G, Hayashi T et al.PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science272, 1339–1342 (1996).
   PubMed Web of Science ®Google Scholar
• Deltas CC. Mutations of the human polycystic kidney disease 2 (PKD2) gene. Hum. Mut.18, 13–24 (2001).
   PubMed Web of Science ®Google Scholar
• Hateboer N, Veldhuisen B, Peters D et al. Location of mutations within the PKD2 gene influences clinical outcomes. Kidney Int.57, 1444–1451 (2000).
   PubMed Web of Science ®Google Scholar
• Pazour GJ, Witman GB. The vertebrate primary cilium is a sensory organelle. Curr. Opin. Cell Biol.15, 105–110 (2003).
   PubMed Web of Science ®Google Scholar
• Yoder BK, Hou X, Guay-Woodford LM. The polycystic kidney disease proteins, polycystin-1 and polycystin-2, polaris and cystin are co-localized in renal cilia. J. Am. Soc. Nephrol.13, 2508–2516 (2002).
   PubMed Web of Science ®Google Scholar
• Nauli SM, Alenghat FJ, Luo Y et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat. Genet.33, 129–137 (2003).
   PubMed Web of Science ®Google Scholar
• Parnella SC, Magenheimera BS, Masera RL et al. The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimeric G-proteins in vitro. Biochem. Biophys. Res. Comm.251, 625–631 (1998).
   PubMedGoogle Scholar
• Delmas P, Nomura H, Li X et al. Constitutive activation of G-proteins by polycystin-1 is antagonized by polycystin-2. J. Biol. Chem.277, 11276–11283 (2002).
   PubMedGoogle Scholar
• Arnould T, Kim E, Tsiokas L et al. The polycystic kidney disease 1 gene product mediates protein kinase C-dependent and c-Jun N-terminal kinase-dependent activation of the transcription factor AP-1. J. Biol. Chem.273, 6013–6018 (1998).
   PubMed Web of Science ®Google Scholar
• Arnould T, Sellin L, Benzing T et al. Cellular activation triggered by the autosomal dominant polycystic kidney disease gene product PKD2. Mol. Cell. Biol.19, 3423–3434 (1999).
   PubMedGoogle Scholar
• Chauvet V, Tian X, Husson H et al. Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus. J. Clin. Invest.114, 1433–1443 (2004).
   PubMed Web of Science ®Google Scholar
• Bhunia AK, Piontek K, Boletta A et al. PKD1 induces p21waf1 and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a pocess requiring PKD2. Cell109, 157–168 (2002).
   PubMed Web of Science ®Google Scholar
• 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. Hepatology23, 249–252 (1996).
   PubMed Web of Science ®Google Scholar
• 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. Gen.67, 1598–1604 (2000).
   PubMed Web of Science ®Google Scholar
• Li A, Davila S, Furu L et al. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. Am. J. Hum. Gen.72, 691–703 (2003).
   PubMed Web of Science ®Google Scholar
• Drenth JPH, te Morsche RHM, Smink R, Bonifacino JS, Jansen JBMJ. Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. Nat. Genet.33, 345–347 (2003).
   PubMed Web of Science ®Google Scholar
• Drenth JPH, Tahvanainen E, te Morsche RHM et al. Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. Hepatology39, 924–931 (2004).
   PubMed Web of Science ®Google Scholar
• Davila S, Furu L, Gharavi AG et al. Mutations in Sec63 cause autosomal dominant polycystic liver disease. Nat. Genet.36, 575–577 (2004)37.
   PubMed Web of Science ®Google Scholar
• Tahvanainen P, Tahvanainen E, Reijonen H, Halme L, Kaariainen H, Hockerstedt K. Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families. J. Hepatol.38, 39–43 (2003).
   PubMed Web of Science ®Google Scholar
• Hoevenaren IA, Wester R, Schrier S et al. 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.26, 264–270 (2007).
   Google Scholar
• Praetorius HA, Spring KR. The renal cell primary cilium functions as a flow sensor. Curr. Opin. Nephrol. Hyperten.12, 517–520 (2003).
   PubMedGoogle Scholar
• Tahvanainen E, Tahvanainen P, Kaarianinen H, Hockerstedt K. Polycystic liver and kidney disease. Ann. Med.37, 546–555 (2005).
   PubMed Web of Science ®Google Scholar
• Doctor RB, Nash R, Nichols M, Everson GT. Fibrocystic diseases of the liver. In: Hepatology. Zakim D, Boyer T (Eds), WB Saunders, Oxford, UK (2006).
   Google Scholar
• Fain PR, McFann KK, Taylor MRG et al. Modifier genes play a significant role in the phenotypic expression in PKD1. Kidney Int.67, 1256–1267 (2005).
   PubMed Web of Science ®Google Scholar
• Gabow P, Johnson A, Kaehney W, Manco-Johnson M, Duley I, Everson G. Risk factors of the development of hepatic cysts in autosomal dominant polycystic kidney disease. Hepatology11, 1033–1037 (1990).
   PubMed Web of Science ®Google Scholar
• Shrestha R, Mckinley C, Russ P et al. Postmenopausal estrogen therapy selectively stimulates hepatic enlargement in women with autosomal dominant polycystic kidney disease. Hepatology26, 1282–1286 (1997).
   PubMedGoogle Scholar
• Alvaro D, Alpini G, Onori P et al. α and β estrogen receptors and the biliary tree. Mol. Cell Endocrinol.193, 105–108 (2002).
   PubMed Web of Science ®Google Scholar
• Everson G, Emmett M, Brown W, Redmond P, Thickman D. Functional similarities of hepatic and biliary epithelium: studies of fluid constituents and in vivo secretion in response to secretin. Hepatology11, 557–565 (1990).
   PubMed Web of Science ®Google Scholar
• Perrone RD, Grubman SA, Rogers LC et al. Continuous epithelial cell lines from ADPKD liver cysts exhibit characteristics of intrahepatic biliary epithelium. Am. J. Physiol.269, G335–G345 (1995).
   PubMed Web of Science ®Google Scholar
• Vandenburgh HH. Mechanical forces and their second messengers in stimulating cell growth in vitro. Am. J. Physiol. Regul. Integr. Comp. Physiol.262, R350–R355 (1992).
   PubMed Web of Science ®Google Scholar
• Tanner GA, McQuillan PF, Maxwell MR, Keck JK, McAteer JA. An in vitro test of the cell stretch–proliferation hypothesis of renal cyst enlargement. J. Am. Soc. Nephrol6, 1230–1241 (1995).
   PubMedGoogle Scholar
• Nichols MT, Gidey E, Matzakos T et al. Secretion of cytokines and growth factors into ADPKD liver cyst fluid. Hepatology40, 836–846 (2004).
   PubMed Web of Science ®Google Scholar
• Fabris L, Cadamuro M, Fiorotto R et al. Effects of angiogenic factor overexpression by human and rodent cholangiocytes in polycystic liver diseases. Hepatology43, 1001–1012 (2006).
   PubMed Web of Science ®Google Scholar
• Amura CR, Brodsky KS, Groff R, Gattone VH, Voelkel NF, Doctor RB. VEGF receptor inhibition blocks liver cyst growth in pkd2(WS25/-) mice. Am. J. Cell Physiol.293, C419–C428 (2007).
   PubMed Web of Science ®Google Scholar
• Amura CR, Brodsky KS, Gitomer B et al. CXCR2 agonists in ADPKD liver cyst fluids promote cell proliferation. Am. J. Physiol. Cell Physiol.294(3), C786–C796 (2008).
   PubMed Web of Science ®Google Scholar
• Rossetti S, Strmecki L, Gamble V et al. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am. J. Hum. Genet.68, 46–63 (2001).
   PubMed Web of Science ®Google Scholar
• 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.13, 1230–1237 (2002).
   PubMed Web of Science ®Google Scholar
• Deltas CC. Mutations of the human polycystic kidney disease 2 (PKD2) gene. Hum. Mut.18, 13 (2001)
   PubMed Web of Science ®Google Scholar
• Thomas R, McConnel R, Whittacker J, Kirkpatrick P, Bradley J, Sandford R. Identification of mutations in the repeated part of the ADPKD type 1 gene, PKD1, by long-range PCR. Am. J. Hum. Genet.65, 39–49 (1999).
   PubMed Web of Science ®Google Scholar
• Everson GT, Taylor MR, Doctor RB. Polycystic liver disease. Hepatology40, 774–782 (2004).
   PubMedGoogle Scholar
• Everson GT, Taylor MR. Management of polycystic liver disease.Curr. Gastroenterol. Rep.7, 19–25 (2005).
   PubMedGoogle Scholar
• Chauveau D, Fakhouri F, Grunfeld J-P. Liver involvement in autosomal-dominant polycystic kidney disease: therapeutic dilemma. J. Am. Soc. Nephrol.11, 1767–1775 (2000).
   PubMed Web of Science ®Google Scholar
• 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.38, 777–784 (2001).
   PubMed Web of Science ®Google Scholar
• 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. Hepatology8, 1627–1634 (1988).
   PubMed Web of Science ®Google Scholar
• Telenti A, Torres VE, Gross JB, Van Scoy RE, Brown ML, Hattery RR. Hepatic cyst infection in autosomal dominant polycystic kidney disease. Mayo Clin. Proc.65, 933–942 (1990).
   PubMed Web of Science ®Google Scholar
• Uddin W, Ramage JK, Portmann B et al. Hepatic venous outflow obstruction in patients with polycystic liver disease: pathogenesis and treatment. Gut36, 142–145 (1995).
   PubMed Web of Science ®Google Scholar
• Torres VE, Rastogi S, King BF, Stanson AW, Gross JBJ, Nogorney DM. Hepatic venous outflow obstruction in autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol.5, 1186–1192 (1994).
   PubMedGoogle Scholar
• Chapman AB, Rubinstein D, Hughes R et al. Intracranial aneurysms in autosomal dominant polycystic kidney disease. N. Engl. J. Med.327, 916–920 (1992).
   PubMed Web of Science ®Google Scholar
• Torres VE, Harris, PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet369, 1287–1301 (2007).
   PubMed Web of Science ®Google Scholar
• Wilson PD. Polycystic kidney disease. N. Engl. J. Med.350, 151–164 (2004).
   PubMed Web of Science ®Google Scholar
• Tao Y, Kim J, Schrier RW, Edelstein CL. Rapamycin markedly slows disease progression in a rat model of polycystic kidney disease. J. Am. Soc. Nephrol.16, 46–51 (2005).
   PubMed Web of Science ®Google Scholar
• Wahl PR, Serra AL, Le Hir M, Molle KD, Hall MN, Wuthrich RP. Inhibition of mTOR with sirolimus slows disease progression in han:Sprd rats with autosomal dominant polycystic kidney disease (ADPKD). Nephrol. Dial. Transplant.21, 598–604 (2006).
   PubMed Web of Science ®Google Scholar
• Shillingford JM, Murcia NS, Larson CH et al. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc. Natl Acad. Sci. USA103, 5466–5471 (2006).
   PubMed Web of Science ®Google Scholar
• Qian Q, Du H, King BF et al. Sirolimus reduces polycystic liver volume in ADPKD patients. J. Am. Soc. Nephrol.19, 631–638 (2008).
   PubMed Web of Science ®Google Scholar
• Walz G. Therapeutic approaches in autosomal dominant polycystic kidney disease (ADPKD): is there light at the end of the tunnel? Nephrol. Dial. Transplant.21, 1752–1757 (2006).
   PubMed Web of Science ®Google Scholar
• Chauveau D, Martinez F, Grunfeld JP. Evaluation of octreotide in massive polycystic liver disease. Presented at: The 12th International Congress of Nephrology Conference Program. Jerusalem, Israel, June 8–13, 1993.
   Google Scholar
• 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 3´,5´-cyclic monophosphate. Gastroenterology132, 1104–1116 (2007).
   PubMed Web of Science ®Google Scholar
• 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.16, 846–851 (2005).
   PubMed Web of Science ®Google Scholar
• Kornprat P, Cerwenka H, Bacher H et al. Surgical therapy options in polycystic liver disease. Wien Klin. Wochenschr.117, 215–218 (2005)
   PubMedGoogle Scholar
• van Sonnenberg E, Wroblicka JT, D’Agostino HB et al. Symptomatic hepatic cysts: percutaneous drainage and sclerosis. Radiology190, 387–392 (1994).
   PubMed Web of Science ®Google Scholar
• 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. Intervent. Radiol.7, 235–239 (1996).
   PubMed Web of Science ®Google Scholar
• Russell RT, Pinson, CW. Surgical management of polycystic liver disease. World J. Gastroenterol.13, 5052–5059 (2007).
   PubMed Web of Science ®Google Scholar
• Gigot JF, Jadoul P, Que F et al. Adult polycystic liver disease: is fenestration the most adequate operation for long-term management? Annals Surg.225, 286–294 (1997).
   PubMed Web of Science ®Google Scholar
• Robinson TN, Stiegmann GV, Everson GT. Laparoscopic palliation of polycystic liver disease. Surg. Endosc.19, 130–132 (2005).
   PubMedGoogle Scholar
• Que F, Nagorney DM, Gross JBJ, Torres VE. Liver resection and cyst fenestration in the treatment of severe polycystic liver disease. Gastroenterology108, 487–494 (1995).
   PubMed Web of Science ®Google Scholar
• Klupp J, Bechstein WO, Lobeck H, Neuhaus P. Orthotopic liver transplantation in therapy of advanced polycystic liver disease. Chirurgie67, 515–521 (1996).
   Google Scholar
• Washburn WK, Johnson LB, Lewis WD, Jenkins RL. Liver transplantation for adult polycystic liver disease. Liver Transpl. Surg.2, 17–22 (1996).
   PubMedGoogle Scholar
• Lang H, Woellwarth JV, Oldhafer KJ et al. Liver transplantation in patients with polycystic liver disease. Transplant. Proc.29, 2832–2833 (1997).
   PubMedGoogle Scholar
• Swenson K, Seu P, Kinkhabwala M et al. Liver transplantation for adult polycystic disease. Hepatology28, 412–415 (1998).
   PubMed Web of Science ®Google Scholar
• Pirenne J, Aerts R, Yoong K et al. Liver transplantation for polycystic liver disease. Liver Transpl.7, 238–245 (2001).
   PubMedGoogle Scholar
• Gustafsson BI, Friman S, Mjornstedt L, Olaussen M, Backman L. Liver transplantation for polycystic liver disease – indications and outcomes. Transplant. Proc.35, 813–814 (2003).
   PubMedGoogle Scholar
• Arrazola L, Moonka D, Gish RG, Everson GT. Model for end-stage liver disease (MELD) exception for polycystic liver disease. Liver Transpl.12, S110–S111 (2006).
   PubMed Web of Science ®Google Scholar
• Masyuk TV, Huang BQ, Ward CJ et al. Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. Gastroenterology125(5), 1303–1310 (2003).
   PubMed Web of Science ®Google Scholar