Novel therapeutic approaches to autosomal dominant polycystic kidney disease

Translational Research

Volumn 165, Issue 4, 2015, Pages 488-498

  Lariviere, Wells B ^a   Irazabal, Maria V ^a   Torres, Vicente E ^a,b  

^a MAYO CLINIC   (United States)

^b Mayo Clinic   (United States)

Author keywords

ADPKD; AMP activated protein kinase; AMPK; autosomal dominant polycystic kidney disease; cAMP; CFTR; cyclic adenosine 3',5' monophosphate; cystic fibrosis transmembrane conductance regulator; end stage renal disease; ESRD; mammalian target of rapamycin; mTOR; PC1; PC2; polycystin 1; polycystin 2; V2R; vasopressin V2 receptor

Indexed keywords

BOSUTINIB; CYCLIC AMP; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; SOMATOSTATIN DERIVATIVE; VASOPRESSIN RECEPTOR ANTAGONIST;

ARTICLE; DISEASE COURSE; GENETICS; HUMAN; KIDNEY POLYCYSTIC DISEASE; MOLECULAR THERAPY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; DRUG DESIGN; DRUG DEVELOPMENT; MOLECULARLY TARGETED THERAPY; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT;

DRUG DESIGN; DRUG DISCOVERY; HUMANS; MOLECULAR TARGETED THERAPY; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT;

EID: 84925110439     PISSN: 19315244     EISSN: 18781810     Source Type: Journal    
DOI: 10.1016/j.trsl.2014.11.003     Document Type: Review

References (105)

1. V.E. Torres, P.C. Harris, and Y. Pirson Autosomal dominant polycystic kidney disease Lancet 369 2007 1287 1301
2. G. Wu, G.S. Markowitz, and L. Li et al. Cardiac defects and renal failure in mice with targeted mutations in Pkd2 Nat Genet 24 2000 75 78
3. S. Somlo, and B. Ehrlich Human disease: calcium signaling in poylcystic kidney disease Curr Biol 11 2001 R356 R360
4. D.P. Wallace Cyclic AMP-mediated cyst expansion Biochim Biophys Acta 1812 2011 1291 1300
5. V.E. Torres, and P.C. Harris Strategies targeting cAMP signaling in the treatment of polycystic kidney disease J Am Soc Nephrol 25 2014 18 32
6. J.J. Grantham, V.E. Torres, and A.B. Chapman et al. Volume progression in polycystic kidney disease N Engl J Med 354 2006 2122 2130
7. A.B. Chapman, J.E. Bost, and V.E. Torres et al. Kidney volume and functional outcomes in autosomal dominant polycystic kidney disease Clin J Am Soc Nephrol 7 2012 479 486
8. T. Ecder Cardiovascular complications in autosomal dominant polycystic kidney disease Curr Hypertens Rev 9 2013 2 11
9. A.B. Chapman, V.E. Torres, and R.D. Perrone et al. The HALT polycystic kidney disease trials: design and implementation Clin J Am Soc Nephrol 5 2010 102 109
10. V.E. Torres, A.B. Chapman, and R.D. Perrone et al. Analysis of baseline parameters in the HALT polycystic kidney disease trials Kidney Int 81 2012 577 585
11. S. Rossetti, M.B. Consugar, and A.B. Chapman et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease J Am Soc Nephrol 18 2007 2143 2160
12. N. Hateboer, M.A. v Dijk, and N. Bogdanova et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group Lancet 353 1999 103 107
13. S. Rossetti, S. Burton, and L. Strmecki 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 2002 1230 1237
14. S. Rossetti, and P.C. Harris The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD) Curr hypertens Rev 9 2013 37 43
15. Y. Pei, Z. Lan, and K. Wang et al. A missense mutation in PKD1 attenuates the severity of renal disease Kidney Int 81 2012 412 417
16. E. Cornec-Le Gall, M.P. Audrezet, and J.M. Chen et al. Type of PKD1 mutation influences renal outcome in ADPKD J Am Soc Nephrol 24 2013 1006 1013
17. P.M. Vassilev, L. Guo, and X.Z. Chen et al. Polycystin-2 is a novel cation channel implicated in defective intracellular Ca(2+) homeostasis in polycystic kidney disease Biochem Biophys Res Commun 282 2001 341 350
18. G.I. Anyatonwu, and B.E. Ehrlich Organic cation permeation through the channel formed by polycystin-2 J Biol Chem 280 2005 29488 29493
19. B.K. Yoder, X. Hou, and L.M. Guay-Woodford The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia J Am Soc Nephrol 13 2002 2508 2516
20. P. Koulen, Y. Cai, and L. Geng et al. Polycystin-2 is an intracellular calcium release channel Nat Cell Biol 4 2002 191 197
21. L. Foggensteiner, A.P. Bevan, and R. Thomas et al. Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene J Am Soc Nephrol 11 2000 814 827
22. N.G. Santoso, L. Cebotaru, and W.B. Guggino Polycystin-1, 2, and STIM1 interact with IP(3)R to modulate ER Ca release through the PI3K/Akt pathway Cell Physiol Biochem 27 2011 715 726
23. S.M. Nauli, F.J. Alenghat, and Y. Luo et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells Nat Genet 33 2003 129 137
24. S.M. Nauli, Y. Kawanabe, and J.J. Kaminski et al. Endothelial cilia are fluid shear sensors that regulate calcium signaling and nitric oxide production through polycystin-1 Circulation 117 2008 1161 1171
25. A.I. Masyuk, T.V. Masyuk, and P.L. Splinter et al. Cholangiocyte cilia detect changes in luminal fluid flow and transmit them into intracellular Ca2+ and cAMP signaling Gastroenterology 131 2006 911 920
26. G.I. Anyatonwu, M. Estrada, and X. Tian et al. Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2 Proc Natl Acad Sci U S A 104 2007 6454 6459
27. P.G. DeCaen, M. Delling, and T.N. Vien et al. Direct recording and molecular identification of the calcium channel of primary cilia Nature 504 2013 315 318
28. M. Delling, P.G. DeCaen, and J.F. Doerner et al. Primary cilia are specialized calcium signalling organelles Nature 504 2013 311 314
29. T. Yamaguchi, S.J. Hempson, and G.A. Reif et al. Calcium restores a normal proliferation phenotype in human polycystic kidney disease epithelial cells J Am Soc Nephrol 17 2006 178 187
30. J. Paavola, S. Schliffke, and S. Rossetti et al. Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy J Mol Cell Cardiol 58 2013 199 208
31. T.V. Masyuk, A.I. Masyuk, V.E. Torres, P.C. Harris, and N.F. Larusso Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate Gastroenterology 132 2007 1104 1116
32. S.N. Kip, L.W. Hunter, and Q. Ren et al. [Ca2+]i reduction increases cellular proliferation and apoptosis in vascular smooth muscle cells: relevance to the ADPKD phenotype Circ Res 96 2005 873 880
33. B. Banizs, P. Komlosi, and M.O. Bevensee et al. Altered pH(i) regulation and Na(+)/HCO3(-) transporter activity in choroid plexus of cilia-defective Tg737(orpk) mutant mouse Am J Physiol Cell Physiol 292 2007 C1409 C1416
34. C. Spirli, L. Locatelli, and R. Fiorotto et al. Altered store operated calcium entry increases cyclic 3',5'-adenosine monophosphate production and extracellular signal-regulated kinases 1 and 2 phosphorylation in polycystin-2-defective cholangiocytes Hepatology 55 2012 856 868
35. J. Flores, P.A. Witkum, and B. Beckman et al. Stimulation of osmotic water flow in toad bladder by prostaglandin E1. Evidence for different compartments of cyclic AMP J Clin Invest 56 1975 256 262
36. S. Rees, W. Kittikulsuth, and K. Roos et al. Adenylyl cyclase 6 deficiency ameliorates polycystic kidney disease J Am Soc Nephrol 25 2014 232 237
37. C. Sussman, C.J. Ward, and A. Leightner et al. Regulation of renal cyst formation by phosphodiesterase 1a in zebrafish [Abstract] J Am Soc Nephrol 1A 2012 1A
38. H. Ye, X. Wang, and C.R. Sussman et al. Genetic approach to evaluate the role of PDE3 subfamilies in polycystic kidney disease [Abstract] J Am Soc Nephrol 23 2012 239A
39. A. Wuebken, and K.M. Schmidt-Ott WNT/beta-catenin signaling in polycystic kidney disease Kidney Int 80 2011 135 138
40. S. Taurin, N. Sandbo, and Y. Qin et al. Phosphorylation of beta-catenin by cyclic AMP-dependent protein kinase J Biol Chem 281 2006 9971 9976
41. M.A. Lancaster, and J.G. Gleeson Cystic kidney disease: the role of Wnt signaling Trends Mol Med 16 2010 349 360
42. T.F. Gallegos, V. Kouznetsova, and K. Kudlicka et al. A protein kinase A and Wnt-dependent network regulating an intermediate stage in epithelial tubulogenesis during kidney development Dev Biol 364 2012 11 21
43. M. Ye, and J.J. Grantham The secretion of fluid by renal cysts from patients with autosomal dominant polycystic kidney disease N Engl J Med 329 1993 310 313
44. I.E. Veizis, and C.U. Cotton Role of kidney chloride channels in health and disease Pediatr Nephrol 22 2007 770 777
45. J.J. Grantham Mechanisms of progression in autosomal dominant polycystic kidney disease Kidney Int Suppl 63 1997 S93 S97
46. L.P. Sullivan, D.P. Wallace, and J.J. Grantham Epithelial transport in polycystic kidney disease Physiol Rev 78 1998 1165 1191
47. H. Li, W. Yang, and F. Mendes et al. Impact of the cystic fibrosis mutation F508del-CFTR on renal cyst formation and growth Am J Physiol Renal Physiol 303 2012 F1176 1186
48. D.A. O'Sullivan, V.E. Torres, and P.A. Gabow et al. Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease Am J Kidney Dis 32 1998 976 983
49. N. Xu, J.F. Glockner, and S. Rossetti et al. Autosomal dominant polycystic kidney disease coexisting with cystic fibrosis J Nephrol 19 2006 529 534
50. K. Hanaoka, and W.B. Guggino cAMP regulates cell proliferation and cyst formation in autosomal polycystic kidney disease cells J Am Soc Nephrol 11 2000 1179 1187
51. T. Yamaguchi, J.C. Pelling, and N.T. Ramaswamy et al. cAMP stimulates the in vitro proliferation of renal cyst epithelial cells by activating the extracellular signal-regulated kinase pathway Kidney Int 57 2000 1460 1471
52. G. Distefano, M. Boca, and I. Rowe et al. Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1 Mol Cell Biol 29 2009 2359 2371
53. C. Spirli, S. Okolicsanyi, and R. Fiorotto et al. ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice Gastroenterology 138 2010 360 371 e367
54. C. Betz, and M.N. Hall Where is mTOR and what is it doing there? J Cell Biol 203 2013 563 574
55. G. Aguiari, F. Bizzarri, and A. Bonon et al. Polycystin-1 regulates amphiregulin expression through CREB and AP1 signalling: implications in ADPKD cell proliferation J Mol Med (Berl) 90 2012 1267 1282
56. S. Qin, M. Taglienti, and L. Cai et al. c-Met and NF-kappaB-dependent overexpression of Wnt7a and -7b and Pax2 promotes cystogenesis in polycystic kidney disease J Am Soc Nephrol 23 2012 1309 1318
57. J.J. Talbot, X. Song, and X. Wang et al. The cleaved cytoplasmic tail of polycystin-1 regulates Src-dependent STAT3 activation J Am Soc Nephrol 25 2014 1737 1748
58. J.R. Martinez, and J.J. Grantham Polycystic kidney disease: etiology, pathogenesis, and treatment Dis Mon 41 1995 693 765
59. B. Bai, H. Horlad, and Y. Saito et al. Role of Stat3 activation in cell-cell interaction between B-cell lymphoma and macrophages: the in vitro study J Clin Exp Hematop 53 2013 127 133
60. A. Karihaloo, F. Koraishy, and S.C. Huen et al. Macrophages promote cyst growth in polycystic kidney disease J Am Soc Nephrol 22 2011 1809 1814
61. K.I. Swenson-Fields, C.J. Vivian, and S.M. Salah et al. Macrophages promote polycystic kidney disease progression Kidney Int 83 2013 855 864
62. R.R. Verani, and F.G. Silva Histogenesis of the renal cysts in adult (autosomal dominant) polycystic kidney disease: a histochemical study Mod Pathol 1 1988 457 463
63. V.E. Torres, X. Wang, and Q. Qian et al. Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease Nat Med 10 2004 363 364
64. V.H. Gattone 2nd, X. Wang, and P.C. Harris et al. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist Nat Med 9 2003 1323 1326
65. S. Nagao, K. Nishii, and M. Katsuyama et al. Increased water intake decreases progression of polycystic kidney disease in the PCK rat J Am Soc Nephrol 17 2006 2220 2227
66. H. Valtin Hereditary hypothalamic diabetes insipidus in rats (Brattleboro strain). A useful experimental model Am J Med 42 1967 814 827
67. X. Wang, Y. Wu, C.J. Ward, P.C. Harris, and V.E. Torres Vasopressin directly regulates cyst growth in polycystic kidney disease J Am Soc Nephrol 19 2008 102 108
68. X. Wang, V. Gattone 2nd, and P.C. Harris et al. 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 2005 846 851
69. V.E. Torres, F.T. Winklhofer, and A.B. Chapman et al. Phase 2 Open-Label study to determine long-term safety, tolerability and efficacy of split-dose tolvaptan in ADPKD J Am Soc Nephrol 20 2009 497A [Abstract]
70. E. Higashihaha, K. Nutahara, and S. Horie et al. An open-label long term administration study of tolvaptan in patients with ADPKD in Japan J Am Soc Nephrol 20 2009 747A [Abstract]
71. V.E. Torres, A.B. Chapman, and O. Devuyst et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease N Engl J Med 367 2012 2407 2418
72. G. Friedlander, and C. Amiel Somatostatin and alpha 2-adrenergic agonists selectively inhibit vasopressin-induced cyclic AMP accumulation in MDCK cells FEBS Lett 198 1986 38 42
73. S.N. Winkler, S. Torikai, and B.S. Levine et al. Effect of somatostatin on vasopressin-induced antidiuresis and renal cyclic AMP of rats Miner Electrolyte Metab 7 1982 8 14
74. C.K. Tan, P.V. Podila, and J.E. Taylor et al. Human cholangiocarcinomas express somatostatin receptors and respond to somatostatin with growth inhibition Gastroenterology 108 1995 1908 1916
75. T.F. Tracy Jr., A.J. Tector, and M.E. Goerke et al. Somatostatin analogue (octreotide) inhibits bile duct epithelial cell proliferation and fibrosis after extrahepatic biliary obstruction Am J Pathol 143 1993 1574 1578
76. M.V. Irazabal, and V.E. Torres Experimental therapies and ongoing clinical trials to slow down progression of ADPKD Curr Hypertens Rev 9 2013 44 59
77. T.V. Masyuk, B.N. Radtke, and A.J. Stroope et al. Pasireotide is more effective than octreotide in reducing hepatorenal cystogenesis in rodents with polycystic kidney and liver diseases Hepatology 58 2013 409 421
78. P. Ruggenenti, A. Remuzzi, and P. Ondei et al. Safety and efficacy of long-acting somatostatin treatment in autosomal-dominant polycystic kidney disease Kidney Int 68 2005 206 216
79. A. Caroli, L. Antiga, and M. Cafaro et al. Reducing polycystic liver volume in ADPKD: effects of somatostatin analogue octreotide Clin J Am Soc Nephrol 5 2010 783 789
80. L. van Keimpema, F. Nevens, and R. Vanslembrouck et al. Lanreotide reduces the volume of polycystic liver: a randomized, double-blind, placebo-controlled trial Gastroenterology 137 2009 1661 1668 e1661-e1662
81. M. Chrispijn, F. Nevens, and T.J. Gevers et al. The long-term outcome of patients with polycystic liver disease treated with lanreotide Aliment Pharmacol Ther 35 2012 266 274
82. M.C. Hogan, T.V. Masyuk, and L.J. Page et al. Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease J Am Soc Nephrol 21 2010 1052 1061
83. M.C. Hogan, T.V. Masyuk, and L. Page et al. Somatostatin analog therapy for severe polycystic liver disease: results after 2 years Nephrol Dial Transplant 27 2012 3532 3539
84. M. Chrispijn, T.J. Gevers, and J.C. Hol et al. Everolimus does not further reduce polycystic liver volume when added to long acting octreotide: results from a randomized controlled trial J Hepatol 59 2013 153 159
85. A. Caroli, N. Perico, and A. Perna et al. Effect of long acting somatostatin analogue on kidney and cyst growth in autosomal dominant polycystic kidney disease (ALADIN): a randomised, placebo-controlled, multicentre trial Lancet 382 2013 1485 1495
86. E. Meijer, J.P. Drenth, and H. d'Agnolo et al. Rationale and Design of the DIPAK 1 Study: a randomized controlled clinical trial assessing the efficacy of lanreotide to halt disease progression in autosomal dominant polycystic kidney disease Am J Kidney Dis 63 2014 446 455
87. A.C. Ong, P.C. Harris, and D.R. Davies et al. Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue Kidney Int 56 1999 1324 1333
88. P.C. Harris Autosomal dominant polycystic kidney disease: clues to pathogenesis Hum Mol Genet 8 1999 1861 1866
89. L. Longa, F. Scolari, and A. Brusco et al. A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease Nephrol Dial Transplant 12 1997 1900 1907
90. R. Dere, P.D. Wilson, and R.N. Sandford et al. Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR PLoS One 5 2010 e9239
91. I. Zafar, F.A. Belibi, and Z. He et al. Long-term rapamycin therapy in the Han:SPRD rat model of polycystic kidney disease (PKD) Nephrol Dial Transplant 24 2009 2349 2353
92. J.M. Shillingford, N.S. Murcia, and C.H. Larson et al. 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
93. Q. Qian, H. Du, and B.F. King et al. Sirolimus reduces polycystic liver volume in ADPKD patients J Am Soc Nephrol 19 2008 631 638
94. P.R. Wahl, A.L. Serra, and M. Le Hir et al. Inhibition of mTOR with sirolimus slows disease progression in Han:SPRD rats with autosomal dominant polycystic kidney disease (ADPKD) Nephrol Dial Transplant 21 2006 598 604
95. C. Renken, D.C. Fischer, and G. Kundt et al. Inhibition of mTOR with sirolimus does not attenuate progression of liver and kidney disease in PCK rats Nephrol Dial Transplant 26 2011 92 100
96. Z. Novalic, A.M. van der Wal, and W.N. Leonhard et al. Dose-dependent effects of sirolimus on mTOR signaling and polycystic kidney disease J Am Soc Nephrol 23 2012 842 853
97. G. Canaud, B. Knebelmann, and P.C. Harris et al. Therapeutic mTOR inhibition in autosomal dominant polycystic kidney disease: what is the appropriate serum level? Am J Transplant 10 2010 1701 1706
98. N. Perico, L. Antiga, and A. Caroli et al. Sirolimus therapy to half the progression of ADPKD J Am Soc Nephrol 21 2010 1031 1040
99. G. Stallone, B. Infante, and G. Grandaliano et al. Rapamycin for treatment of type I autosomal dominant polycystic kidney disease (RAPYD-study): a randomized, controlled study Nephrol Dial Transplant 27 2012 3560 3567
100. A.L. Serra, D. Poster, and A.D. Kistler et al. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease N Engl J Med 363 2010 820 829
101. G. Walz, K. Budde, and M. Mannaa et al. Everolimus in patients with autosomal dominant polycystic kidney disease N Engl J Med 363 2010 830 840
102. W.E. Braun, J.D. Schold, and B.R. Stephany et al. Low-dose rapamycin (sirolimus) effects in autosomal dominant polycystic kidney disease: an open-label randomized controlled pilot study Clin J Am Soc Nephrol 9 2014 881 888
103. W.E. Sweeney Jr., R.O. von Vigier, and P. Frost et al. Src inhibition ameliorates polycystic kidney disease J Am Soc Nephrol 19 2008 1331 1341
104. J. Elliott, N.N. Zheleznova, and P.D. Wilson c-Src inactivation reduces renal epithelial cell-matrix adhesion, proliferation, and cyst formation Am J Physiol Cell Physiol 301 2011 C522 C529
105. M. Cadnapaphornchai, D. George, and W. Wang et al. Effect of pravastatin on total kidney volume, left ventricular mass index, and microalbuminuria in Pediatric Autosomal Dominant Polycystic Kidney Disease Clin J Am Soc Nephrol 9 2014 889 896