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9 p, 780.5 KB |
Flank pain has a significant adverse impact on quality of life in ADPKD : the CYSTic-QoL study
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Winterbottom, J. (Sheffield Teaching Hospitals Nhs Foundation Trust) ;
Simms, R.J. (Sheffield Teaching Hospitals Nhs Foundation Trust) ;
Caroli, A. (Istituto di Ricerche Farmacologiche Mario Negri Irccs) ;
Cornec-Le Gall, Emilie (Brest University) ;
Demoulin, Nathalie (Université Catholique de Louvain Medical School) ;
Furlano, Monica (Institut d'Investigació Biomèdica Sant Pau) ;
Meijer, E. (University Medical Centre Groningen) ;
Devuyst, Olivier (Université Catholique de Louvain Medical School) ;
Gansevoort, R.T. (University Medical Centre Groningen) ;
Le-Meur, Y. (Brest University) ;
Perico, N. (Istituto di Ricerche Farmacologiche Mario Negri Irccs) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Ong, A.C.M. (Sheffield Teaching Hospitals Nhs Foundation Trust) ;
Universitat Autònoma de Barcelona
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder and a major cause of kidney failure worldwide. However, its impact on quality-of-life has not been systematically explored. [...]
2022 -  10.1093/ckj/sfac144
Clinical Kidney Journal, Vol. 15 Núm. 11 (january 2022) , p. 2063-2071
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15 p, 949.7 KB |
An update on the use of tolvaptan for autosomal dominant polycystic kidney disease : Consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International
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Müller, Roman-Ulrich U. (Cecad. University of Cologne. Faculty of Medicine and University Hospital Cologne) ;
Messchendorp, A. Lianne (Department of Nephrology. University Medical Center Groningen. University of Groningen) ;
Birn, Henrik (Departments of Clinical Medicine and Biomedicine. Aarhus University) ;
Capasso, Giovambattista (Biogem Institute for Molecular Biology and Genetics) ;
Cornec-Le Gall, Emilie (University Brest. Inserm. Umr 1078. GGB. Chu Brest) ;
Devuyst, Olivier (Division of Nephrology. Ucl Medical School) ;
Van Eerde, Albertien (Department of Genetics. University Medical Center Utrecht) ;
Guirchoun, Patrick (Association PolyKystose France (PKD France)) ;
Harris, Tess (Pkd International) ;
Hoorn, Ewout J. (University Medical Center Rotterdam) ;
Knoers, Nine V.A.M. (Department Genetics. University Medical Centre Groningen) ;
Korst, Uwe (Pkd Familiäre Zystennieren E.V.) ;
Mekahli, Djalila (Department of Pediatric Nephrology and Organ Transplantation. University Hospitals Leuven) ;
Le Meur, Yannick (Department of Nephrology. Hemodialysis and Renal Transplantation. Chu and University of Brest) ;
Nijenhuis, Tom (Radboud University Medical Center) ;
Ong, Albert C.M. (Sheffield Kidney Institute. Sheffield Teaching Hospitals Nhs Foundation Trust) ;
Sayer, John A. (Translational and Clinical Research Institute. Faculty of Medical Sciences. Newcastle University) ;
Schaefer, Franz (Division of Pediatric Nephrology. Center for Pediatrics and Adolescent Medicine. Heidelberg University Hospital) ;
Servais, Aaude (Nephrology and Transplantation Department. Necker University Hospital. Aphp) ;
Tesar, Vladimir (Department of Nephrology. 1st Faculty of Medicine. General University Hospital) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Walsh, Stephen B. (Department of Renal Medicine. University College London) ;
Gansevoort, Roon T. (Department of Nephrology. University Medical Center Groningen. University of Groningen) ;
Universitat Autònoma de Barcelona
Approval of the vasopressin V2 receptor antagonist tolvaptan-based on the landmark TEMPO 3:4 trial-marked a transformation in the management of autosomal dominant polycystic kidney disease (ADPKD). This development has advanced patient care in ADPKD from general measures to prevent progression of chronic kidney disease to targeting disease-specific mechanisms. [...]
2022 - 10.1093/ndt/gfab312
Nephrology Dialysis Transplantation, Vol. 37 Núm. 5 (january 2022) , p. 825-839
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11 p, 389.0 KB |
Creatine Kinase Elevation in Autosomal Dominant Polycystic Kidney Disease Patients on Tolvaptan Treatment
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Rodríguez-Espinosa, Diana (Hospital Clínic i Provincial de Barcelona) ;
Broseta, José Jesús (Hospital Clínic i Provincial de Barcelona) ;
Bastida, C. (Hospital Clínic i Provincial de Barcelona) ;
Álvarez-Mora, María Isabel (Hospital Clínic i Provincial de Barcelona) ;
Nicolau, Carlos (Hospital Clínic i Provincial de Barcelona) ;
Alvarez, Cristina (Hospital Clínic i Provincial de Barcelona) ;
Agraz Pamplona, Irene (Hospital Universitari Vall d'Hebron) ;
Sánchez-Baya, Maya (Institut d'Investigació Biomèdica Sant Pau) ;
Furlano, Monica (Institut d'Investigació Biomèdica Sant Pau) ;
Ruiz, César (Institut d'Investigació Biomèdica Sant Pau) ;
Quintana, Luis F. (Hospital Clínic i Provincial de Barcelona) ;
Piñeiro, Gastón Julio (Hospital Clínic i Provincial de Barcelona) ;
Poch, Esteban (Hospital Clínic i Provincial de Barcelona) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Blasco Pelicano, Miquel (Hospital Clínic i Provincial de Barcelona) ;
Universitat Autònoma de Barcelona
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cause of end-stage kidney disease. Currently, tolvaptan is the only treatment that has proven to delay disease progression. [...]
2022 - 10.1159/000526368
Nephron. Clinical Practice, Vol. 147 (september 2022) , p. 152-157
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23 p, 654.2 KB |
Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020 Documento de consenso de poliquistosis renal autosómica dominante del grupo de trabajo de enfermedades hereditarias de la Sociedad Española de Nefrología. Revisión 2020
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Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Bernis, C. (Hospital Universitario de la Princesa (Madrid)) ;
Fraga Rodríguez, Gloria María (Institut d'Investigació Biomèdica Sant Pau) ;
Furlano, Monica (Institut d'Investigació Biomèdica Sant Pau) ;
Martínez, V. (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ;
Martins, J. (Servicio de Nefrología. Hospital Universitario de Getafe. Universidad Europea de Madrid) ;
Ortiz, A. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Pérez-Gómez, M.V. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Rodríguez-Pérez, J.C. (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Sans, L. (Hospital del Mar (Barcelona, Catalunya)) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent cause of genetic renal disease and accounts for 6-10% of patients on kidney replacement therapy (KRT). Very few prospective, randomized trials or clinical studies address the diagnosis and management of this relatively frequent disorder. [...]
2022 - 10.1016/j.nefroe.2022.11.011
Nefrología (Badalona. English), Vol. 42 Núm. 4 (enero 2022) , p. 367-389
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10 p, 1.6 MB |
Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease
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Naranjo, Javier (Hospital Universitario Puerta del Mar (Cadis, Andalusia)) ;
Furlano, Monica (Institut d'Investigació Biomèdica Sant Pau) ;
Torres, Ferran (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Hernandez, Jonathan (Fundació Puigvert) ;
Pybus, Marc (Institut d'Investigació Biomèdica Sant Pau) ;
Ejarque, Laia (Institut d'Investigació Biomèdica Sant Pau) ;
Cordoba, Christian (Institut d'Investigació Biomèdica Sant Pau) ;
Guirado, Luis (Institut d'Investigació Biomèdica Sant Pau) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease and shows a wide phenotype. Only patients with rapid progression (RP) are included in clinical trials or are approved to receive disease-modifying drugs. [...]
2022 - 10.1093/ckj/sfab293
Clinical Kidney Journal, Vol. 15 Núm. 5 (january 2022) , p. 912-921
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12 p, 666.2 KB |
Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease : a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice
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Gansevoort, Ron T.. (University Medical Center Groningen, University of Groningen) ;
Arici, Mustafa (Hacettepe University Faculty of Medicine) ;
Benzing, Thomas (University of Cologne) ;
Birn, Henrik (Aarhus University) ;
Capasso, Giovambattista (Second University of Naples) ;
Covic, Adrian (and 'Grigore T. Popa' University of Medicine. C.I. PARHON' University Hospital) ;
Devuyst, Olivier (UCL Medical School) ;
Drechsler, Christiane (University Hospital. University of Würzburg) ;
Eckardt, Kai-Uwe (Friedrich-Alexander University Erlangen-Nürnberg (FAU)) ;
Emma, Francesco (Bambino Gesù Children's Hospital) ;
Knebelmann, Bertrand (Paris Descartes University. Hôpital Necker) ;
Le Meur, Yannick (Hôpital La Cavale Blanche, Centre Hospitalier Régional Universitaire de Brest) ;
Massy, Ziad A. (University of Paris Saclay and Paris Ouest-Versailles-Saint-Quentin-en-Yvelines (UVSQ)) ;
Ong, Albert C. M. (University of Sheffield Medical School) ;
Ortiz, Alberto (Red de Investigación Renal) ;
Schaefer, Franz (Heidelberg University Hospital (Alemanya)) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Vanholder, Raymond (Universitair Ziekenhuis Gent) ;
Więcek, Andrzej (Medical University of Silesia in Katowice) ;
Zoccali, Carmine (CNR-IFC Clinical Epidemiology and Pathophysiology of Renal Diseases and Hypertension Unit, Reggio Calabria c/o Ospedali Riuniti) ;
Van Biesen, Wim (Universitair Ziekenhuis Gent) ;
Universitat Autònoma de Barcelona ;
Institut Puigvert
Recently, the European Medicines Agency approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency of autosomal dominant polycystic kidney disease (ADPKD) in adult patients with chronic kidney disease stages 1-3 at initiation of treatment with evidence of rapidly progressing disease. [...]
2016 - 10.1093/ndt/gfv456
Nephrology Dialysis Transplantation, Vol. 31 (january 2016) , p. 337-348
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7 p, 1.3 MB |
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated
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Cabrera-López, Cristina (Institut d'Investigació Biomèdica Sant Pau) ;
Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ;
Martí, Teresa (Institut d'Investigació Biomèdica Sant Pau) ;
Català, Violeta (Institut d'Investigació Biomèdica Sant Pau) ;
Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ;
Bissler, John (Le Bonheur Children's Hospital) ;
Harris, Peter C. (Mayo Clinic) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are characterized by severe ADPKD, plus TSC. [...]
2015 - 10.1186/s12881-015-0185-y
BMC Medical Genetics, Vol. 16 (june 2015)
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8 p, 343.5 KB |
Renal replacement therapy in ADPKD patients : a 25-year survey based on the Catalan registry
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Martínez, Víctor (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Comas, Jordi (Organització Catalana de Trasplantaments) ;
Arcos, Emma (Organització Catalana de Trasplantaments) ;
Díaz Gómez, Juan Manuel (Fundació Puigvert) ;
Muray, Salomé (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Cabezuelo, Juan (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Ballarín Castan, José Aurelio (Organització Catalana de Trasplantaments) ;
Ars, Elisabet (Fundació Puigvert) ;
Torra Balcells, Roser (Fundació Puigvert)
Background: Some 7-10% of patients on replacement renal therapy (RRT) are receiving it because of autosomal dominant polycystic kidney disease (ADPKD). The age at initiation of RRT is expected to increase over time. [...]
2013 - 10.1186/1471-2369-14-186
BMC Nephrology, Vol. 14, N. 186 (September 2013) , p. 1-8
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