Malattia renale policistica autosomica dominante. Nuovi approcci terapeutici “Ottimisti per diritto”

Wilson P.D. , Falkenstein D. The pathology of human renal cystic disease. In: Dodd S.M. , ed. Tubulointestinal and cystic disease of the kidney Vol. 88 of Current topics in pathology. Berlin, Germany: Springer-Verlag, 1995; 1–50.

Avner E.D. , Piesco N.P. , Sweeney W.E. Jr. , Studnicki F.M. , Fetterman G.H. , Ellis D. Hydrocortisone- induced cystic metanephric maldevelopment in serum-free organ culture. Lab Invest 1984; 50: 208–18.

Latta H. , Maunsbach A.B. , Madddens S.C. Cilia in different segments of the rat nephron. J Biophys Biochem Cytol 1961; 11: 248–52.

Praetorius H.A. , Spring K.R. Bending the MDCK cell primary cilium increases intracellular calcium. J Membr Biol 2001; 184: 71–9.

Praetorius H.A. , Spring K.R. Removal of the MDCK cell primary cilium abolishes flow sensing. J Membr Biol 2003; 191: 69–76.

Nauli S.M. , Alenghat F.J. , Luo Y. . Polycystin 1 e 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 2003; 33: 129–37.

Robert A. , Margall-Ducos G. , Guidotti J.E. . The intraflagellar transport component IFT88/polaris is a centrosomal protein regulating G1-S transition in non-ciliated cells. J Cell Sci 2007; 120: 628–37.

Mostov K.E. mTOR is out of control in polycystic kidney disease. Proc Natl Acad Sci USA 2006; 103: 5247–48.

Shillingford J.M. , Murcia N.S. , Larson C.H. . The mTOR pathway is regulated by policistin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Nat Acad Sci USA 2006; 103: 5466–71.

European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 1994; 77: 881–94.

Mochizuki T. , Wu G. , Hayashi T. . PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996; 272: 1339–42.

Hughes J. , Ward C.J. , Hayashi T. . The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 1995; 10: 151–60.

Hateboer N. , van Dijk M.A. , Bogdanova N. . Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 1999; 353: 103–7.

Ariza M. , Alvarez V. , Marin R. . 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 1997; 34: 587–89.

Pei Y. , Paterson A.D. , Wang K.R. . Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am J Hum Genet 2001; 68: 355–63.

Gabow P.A. Autosomal dominant polycystic kidney disease. N Engl J Med 1993; 329: 332–42.

Rinkel G.J. , Djibuti M. , Algra A. , van Gijn J. Prevalence and risk of rupture of intracranial aneurysms: a systematic review. Stroke 1998; 29: 251–56.

Qian F. , Watnick T.J. , Onuchic L.F. , Germino G.G. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 1996; 87: 979–87.

Longa L. , Scolari F. , Brusco A. . A large TSC2 and PKD1 gene deletion is associated with renal and extra-renal signs of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 1997; 12: 1900–7.

Rossetti S. , Burton S. , Strmecki L. . The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J Am Soc Nephrol 2002; 13: 1230–7.

Woo D. Apoptosis and loss of renal tissue in polycystic kidney diseases. N Engl J Med 1995; 333: 18–25.

Veis D.J. , Sorenson C.M. , Shutter J.R. , Korsmeyer S.J. Bc1-2-deficient mice demonstrate fulminant lymphoid apoptosis, polycystic kidneys, and hypopigmented hair. Cell 1993; 75: 229–40.

Moser M. , Pscherer A. , Roth C. . Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta. Genes Dev 1997; 11: 1938–48.

Du J. , Wilson P.D. Abnormal polarization of EGF receptors and autocrine stimulation of cyst epithelial growth in human ADPKD. Am J Physiol 1995; 269: C487–95.

Wilson P.D. , Sherwood A.C. , Palla K. , Du J. , Watson R. , Norman J.T. Reversed polarity of Na(+)-K(+)-ATPase: mislocation to apical plasma membranes in polycystic kidney disease epithelia. Am J Physiol 1991; 260: F420–30.

Burrow C.R. , Devuyst O. , Li X. , Gatti L. , Wilson P.D. Expression of the beta2-subunit and apical localization of Na+-K+-ATPase in metanephric kidney. Am J Physiol 1999; 277: F391–403.

Wilson P.D. , Devuyst O. , Li X. . Apical plasma membrane mispolarization of NaKATPase in polycystic kidney disease epithelia is associated with aberrant expression of the beta2 isoform. Am J Pathol 2000; 156: 253–68.

Gattone V.H. Emerging therapies for polycystic kidney disease. Curr Opin Pharmacol 2005; 5: 535–42.

Torres V.E. , Sweeney W.E. , Wang X. . EGF receptor tyrosine kinase inhibition attenuates the development of PKD in Han: SPRD rats. Kidney Int 2003; 64: 1573–79.

Tao Y. , Kim J. , Faubel S. . Caspase inhibition reduces tubular apoptosis and proliferation and slows disease progression in polycystic kidney disease. Proc Natl Acad Sci USA 2005; 102: 6954–59.

Woo D.D. , Miao S.Y. , Pelayo J.C. . Taxol inhibits progression of congenital polycystic kidney disease. Nature 1994; 368: 750–3.

Nikolay O. Bukanov Laurie A. . Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. Nature 2006; 444: 949–52.

Huang S. , Houghton P.J. Targeting mTOR signaling for cancer therapy. Curr Opin Pharmacol 2003; 3: 371–77.

Kenerson H.L. , Aicher L.D. , True L.D. , Yeung R.S. Activated mammalian target of rapamycin pathway in the pathogenesis of tuberous sclerosis complex renal tumors. Cancer Res 2002; 62: 5645–50.

Tao Y. , Kim J. , Schrier R.W. , Edelstein C.L. Rapamycin markedly slows disease progression in a rat model of polycystic kidney disease. J. Am. Soc. Nephrol 2005; 16: 46–51.

Wahl P.R. , Serra A.L. , Le Hir M. , Molle K.D. , Hall M.N. , Wuthrich R.P. Inhibition of mTOR with sirolimus slows disease progression in Han: SPRD rats with autosomal dominant polycystic kidney disease (ADPKD). Nephrol. Dial. Transplant 2006; 21: 598–604.

Qian Q. , Du H. , King B.F. . Sirolimus Reduces Polycystic Liver Volume in ADPKD Patients. J Am Soc Nephrol 2008; 19: 631–38.

Walz G. , Budde K. , Mannaa M. . Everolimus in Patients with Autosomal Dominant Polycystic Kidney Disease. N Engl J Med 2010. DOI: 10.1056/NEJ-Moa1003491.

Perico N. , Antiga L. , Caroli A. . Sirolimus therapy to halt the progression of ADPKD. J Am Soc Nephrol 2010; 21: 1031–40.

Serra A.L. , Poster D. , Kistler A.D. . Sirolimus and Kidney Growth in Autosomal Dominant Polycystic Kidney Disease. N Engl J Med 2010. DOI: 10.1056/NEJMoa0907419.

Hogan M.C. , Masyuk T.V. , Page L.J. . Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease. J Am Soc Nephrol 2010; 21: 1052–61.

Masyuk T.V. , Masyuk A.L. , Torres V.E. , Harris P.C. , Larusso N.F. Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3(1),5(1)-cyclic monophosphate. Gastroenterology 2007; 132: 1104–16.

Ruggenenti P. , Remuzzi A. , Ondei P. . Safety and efficacy of long-acting somatostatin treatment in autosomal-dominant polycystic kidney disease. Kidney Int 2005; 68: 206–16.

Gattone VH 2nd , Wang X. , Harris P.C. , Torres V.E. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med 2003; 9: 1323–6.

Torres V.E. , Wang X. , Qian Q. , Somlo S. , Harris P.C. , Gattone VH 2nd. Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat Med 2004; 10: 363–4.

Wang X. , Gattone V 2nd , Harris P.C. , Torres V.E. Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OCP-41061 on polycystic kidney disease development in the PCK rat. J Am Soc Nephrol 2005; 16: 846–51.

“TEMPO 3/4 Trial” Tolvaptan Efficacy and Safety in Management of Polycystic Kidney Disease and Its Outcomes (TEMP03/4). Available at:

http://www.clinicaltrials.gov/ct/show/NCT00428948. Accessed March 9, 2010.