|
1.
|
|
9 p, 780.5 KB |
Flank pain has a significant adverse impact on quality of life in ADPKD : the CYSTic-QoL study
/
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
|
|
|
2.
|
|
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
/
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
|
|
|
3.
|
|
15 p, 1.9 MB |
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
/
Olinger, Eric (Newcastle University) ;
Hofmann, Patrick (Hospital Uster) ;
Kidd, Kendrah (Charles University) ;
Dufour, Inès (Division of Nephrology. Cliniques Universitaires Saint-Luc) ;
Belge, Hendrica (Institute of Pathology and Genetics) ;
Schaeffer, Céline (San Raffaele Scientific Institute) ;
Kipp, Anne (University of Zurich) ;
Bonny, Olivier (Lausanne University Hospital) ;
Deltas, Constantinos (University of Cyprus) ;
Demoulin, Nathalie (Université catholique de Louvain) ;
Fehr, Thomas (Cantonal Hospital Graubuenden) ;
Fuster, Daniel G. (Inselspital Bern University Hospital) ;
Gale, Daniel (University College of London) ;
Goffin, Eric (Université catholique de Louvain) ;
Hodaňová, Kateřina (Charles University) ;
Huynh-Do, Uyen (Inselspital Bern University Hospital) ;
Kistler, Andreas (Cantonal Hospital Frauenfeld) ;
Morelle, Johann (Université catholique de Louvain) ;
Papagregoriou, Gregory (University of Cyprus) ;
Pirson, Yves (Cliniques Universitaires Saint-Luc) ;
Sandford, Richard (Cambridge Biomedical Campus) ;
Sayer, John (Newcastle University) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Venzin, Christina (Hospital Davos) ;
Venzin, Reto (Cantonal Hospital Graubuenden) ;
Vogt, Bruno (Inselspital Bern University Hospital) ;
Živná, Martina (Charles University) ;
Greka, Anna (Massachusetts Institute of Technology) ;
Dahan, Karin (Institute of Pathology and Genetics) ;
Rampoldi, Luca (San Raffaele Scientific Institute) ;
Kmoch, Stanislav (Charles University) ;
Bleyer, Anthony (Charles University) ;
Devuyst, Olivier (Cliniques Universitaires Saint-Luc) ;
Universitat Autònoma de Barcelona
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The lack of clinical recognition and the small size of cohorts have slowed the understanding of disease ontology and development of diagnostic algorithms. [...]
2020 - 10.1016/j.kint.2020.04.038
Kidney International, Vol. 98 Núm. 3 (september 2020) , p. 717-731
|
|
|
4.
|
|
16 p, 1.1 MB |
Genetics in chronic kidney disease : conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
/
Köttgen, Anna (Institute of Genetic Epidemiology. Faculty of Medicine and Medical Center. University of Freiburg) ;
Cornec-Le Gall, Emilie (Univ Brest. INSERM UMR 1078. GGB. CHU Brest) ;
Halbritter, Jan (Charité - Universitätsmedizin Berlin) ;
Kiryluk, Krzysztof (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ;
Mallett, Andrew (KidGen Collaborative. Australian Genomics Health Alliance) ;
Parekh, Rulan (Dalla Lana School of Public Health. and Health Policy. Management and Evaluation. University of Toronto) ;
Rasouly, Hila Milo (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ;
Sampson, Matthew G. (Kidney Disease Initiative. Broad Institute of MIT and Harvard) ;
Tin, Adrienne (Division of Nephrology. University of Mississippi Medical Center) ;
Antignac, Corinne (Department of Genetics. Necker Hospital. APHP) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Bergmann, Carsten (Department of Nephrology. Faculty of Medicine and Medical Center. University of Freiburg) ;
Bleyer, Anthony J. (Section on Nephrology. Wake Forest School of Medicine) ;
Bockenhauer, Detlef (Department of Renal Medicine. University College London) ;
Devuyst, Olivier (Department of Physiology. Mechanisms of Inherited Kidney Disorders Group. University of Zurich) ;
Florez, Jose C. (Department of Medicine. Harvard Medical School) ;
Fowler, Kevin J. (The Voice of the Patient. Inc.) ;
Franceschini, Nora (Department of Epidemiology. Gillings School of Global Public Health. University of North Carolina) ;
Fukagawa, Masafumi (Division of Nephrology. Endocrinology and Metabolism. Tokai University School of Medicine) ;
Gale, Daniel (Rare Renal Disease Registry. UK Renal Registry) ;
Gbadegesin, Rasheed A. (Department of Pediatrics. Division of Nephrology. Duke University Medical Center) ;
Goldstein, David B. (Department of Genetics and Development. Columbia University) ;
Grams, Morgan E. (Department of Nephrology. Johns Hopkins University School of Medicine) ;
Greka, Anna (Department of Medicine. Brigham and Women's Hospital. Harvard Medical School) ;
Gross, Oliver (University Medical Center Göttingen) ;
Guay-Woodford, Lisa M. (Center for Translational Science. Children's National Health System) ;
Harris, Peter C. (Division of Nephrology and Hypertension. Mayo Clinic) ;
Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ;
Hung, Adriana M. (VA Tennessee Valley Healthcare System. Division of Nephrology and Hypertension. Department of Medicine. Vanderbilt Center for Kidney Disease. Vanderbilt Precision Nephrology Program. Vanderbilt University Medical Center) ;
Knoers, Nine V.A.M. (Department of Genetics. University Medical Center Groningen) ;
Kopp, Jeffrey B. (Kidney Disease Section. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). National Institutes of Health (NIH)) ;
Kretzler, Matthias (Department of Computational Medicine and Bioinformatics. University of Michigan) ;
Lanktree, Matthew B. (Department of Medicine. McMaster University) ;
Lipska-Ziętkiewicz, Beata S. (Rare Diseases Centre and Clinical Genetics Unit. Department of Biology and Medical Genetics. Medical University of Gdansk) ;
Nicholls, Kathleen (Department of Nephrology. Royal Melbourne Hospital. University of Melbourne) ;
Nozu, Kandai (Department of Pediatrics. Kobe University Graduate School of Medicine) ;
Ojo, Akinlolu (University of Kansas School of Medicine) ;
Parsa, Afshin (Department of Medicine. University of Maryland School of Medicine) ;
Pattaro, Cristian (Eurac Research. Institute for Biomedicine (affiliated with the University of Lübeck)) ;
Pei, York (Division of Nephrology. University Health Network) ;
Pollak, Martin R. (Division of Nephrology. Beth Israel Deaconess Medical Center. Harvard Medical School) ;
Rhee, Eugene P. (Massachusetts General Hospital) ;
Sanna-Cherchi, Simone (Columbia University) ;
Savige, Judy (The University of Melbourne) ;
Sayer, John (NIHR Newcastle Biomedical Research Centre) ;
Scolari, Francesco (Department of Medical and Surgical Specialties. University of Brescia) ;
Sedor, John R. (Case Western Reserve University. Department of Physiology and Biophysics) ;
Sim, Xueling (Saw Swee Hock School of Public Health. National University of Singapore and National University Health System) ;
Somlo, Stefan (Yale University. Department of Genetics) ;
Susztak, Katalin (University of Pennsylvania. Perelman School of Medicine) ;
Tayo, Bamidele O. (Loyola University Chicago. Department of Public Health Sciences) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
van Eerde, Albertien M. (Utrecht University Medical Center. Department of Genetics) ;
Weinstock, André (Alport Syndrome Foundation) ;
Winkler, Cheryl A. (Frederick National Laboratory for Cancer Research. National Cancer Institute) ;
Wuttke, Matthias (University of Freiburg) ;
Zhang, Hong (Key Ministry of Health of China. Laboratory of Renal Disease) ;
King, Jennifer M. (August Editorial) ;
Cheung, Michael (KDIGO) ;
Jadoul, Michel (Université Catholique de Louvain. Cliniques Universitaires Saint Luc) ;
Winkelmayer, Wolfgang C. (Baylor College of Medicine. Selzman Institute for Kidney Health) ;
Gharavi, Ali G. (Columbia University Irving Medical Center) ;
Universitat Autònoma de Barcelona
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. [...]
2022 - 10.1016/j.kint.2022.03.019
Kidney International, Vol. 101 Núm. 6 (june 2022) , p. 1126-1141
|
|
|
5.
|
|
13 p, 785.5 KB |
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome : an international cross-sectional study
/
Verploegen, Maartje F A (Radboud University Medical Center) ;
Vargas-Poussou, Rosa (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris) ;
Walsh, Stephen B (University College London) ;
Alpay, Harika (Marmara University) ;
Amouzegar, Atefeh (Hospital Universitari Vall d'Hebron) ;
Ariceta Iraola, Gema (Iran University of Medical Sciences) ;
Atmis, Bahriye (Cukurova University Faculty of Medicine) ;
Bacchetta, Justine (University Children's Hospital (França)) ;
Bárány, Peter (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Baron, Stéphanie (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris) ;
Bayrakci, Umut Selda (Üniversiteler Mahallesi Bilkent Caddesi) ;
Belge, Hendrica (University of Groningen) ;
Besouw, Martine (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris) ;
Blanchard, Anne (Université de Paris) ;
Bökenkamp, Arend (Universiteit Amsterdam) ;
Boyer, Olivia (Paris University) ;
Burgmaier, Kathrin (University of Cologne) ;
Calò, Lorenzo A (University of Padova) ;
Decramer, Stéphane (Toulouse University Hospital) ;
Devuyst, Olivier (University of Zurich) ;
van Dyck, Maria (University Hospitals Leuven (Bèlgica)) ;
Ferraro, Pietro Manuel (Fondazione Policlinico Universitario A. Gemelli) ;
Fila, Marc (University Hospital of Montpellier (França)) ;
Francisco, Telma (Centro Hospitalar Universitário de Lisboa Central) ;
Ghiggeri, Gian Marco (Istituto Giannina Gaslini) ;
Gondra, Leire (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Guarino, Stefano (Università degli Studi della Campania 'Luigi Vanvitelli') ;
Hooman, Nakysa (Iran University of Medical Sciences) ;
Hoorn, Ewout J (University Medical Centre Rotterdam) ;
Houillier, Pascal (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Pari) ;
Kamperis, Konstantinos (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Kari, Jameela A (King Abdulaziz University) ;
Konrad, Martin (University Hospital of Münster (Alemanya)) ;
Levtchenko, Elena (University Hospitals Leuven (Bèlgica)) ;
Lucchetti, Laura (Bambino Gesù Children's Hospital) ;
Lugani, Francesca (Children's Hospital of Lucerne) ;
Marzuillo, Pierluigi (Università degli Studi della Campania 'Luigi Vanvitelli') ;
Mohidin, Barian (University College London) ;
Neuhaus, Thomas J (Children's Hospital of Lucerne) ;
Osman, Abdaldafae (Great Ormond Street Hospital for Children (Londres)) ;
Papizh, Svetlana (Pirogov Russian National Research Medical University) ;
Perelló, Manel (Hospital Universitari Vall d'Hebron) ;
Rookmaaker, Maarten B (University Medical Centre Utrecht) ;
Conti, Valerie Said (Mater Dei Hospital Malta) ;
Santos, Fernando (Universidad de Oviedo) ;
Sawaf, Ghalia (Damascus Hospital) ;
Serdaroglu, Erkin (Dr Behçet Uz Children's Hospital) ;
Szczepanska, Maria (SUM in Katowice) ;
Taroni, Francesca (Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico) ;
Topaloglu, Rezan (Hacettepe University School of Medicine) ;
Trepiccione, Francesco (University of Campania "L. Vanvitelli") ;
Vidal, Enrico (University of Udine) ;
Wan, Elizabeth R (Istanbul University) ;
Weber, Lutz (Uniklinik Köln (Colònia, Alemanya)) ;
Yildirim, Zeynep Yuruk (Istanbul University) ;
Yüksel, Selçuk (Pamukkale University School of Medicine) ;
Zlatanova, Galia (University Children's Hospital Medical University (Bulgària)) ;
Bockenhauer, Detlef (University College London) ;
Emma, Francesco (Bambino Gesù Children's Hospital) ;
Nijenhuis, Tom (Radboud University Medical Center) ;
Universitat Autònoma de Barcelona
Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. [...]
2022 - 10.1093/ndt/gfac029
Nephrology Dialysis Transplantation, Vol. 37 (february 2022) , p. 2474-2486
|
|
|
6.
|
|
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
/
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
|
|
visitant ::
identificació
alerta personal via correu electrònic o subscribiu-vos al 
canal RSS.
