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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Zivná, Martina; Kidd, Kendrah; Zaidan, Mohamad; Vyletal, Petr; Baresová, Veronika; Hodanová, Katerina; Sovová, Jana; Hartmannová, Hana; Votruba, Miroslav; Treslová, Helena; Jedlicková, Ivana; Sikora, Jakub; Hulková, Helena; Robins, Victoria; Hnízda, Ales; Zivný, Jan; Papagregoriou, Gregory; Mesnard, Laurent; Beck, Bodo B; Wenzel, Andrea; Tory, Kálmán; Häeffner, Karsten; Wolf, Matthias T F; Bleyer, Michael E; Sayer, John A; Ong, Albert C M; Balogh, Lídia; Jakubowska, Anna; Laszkiewicz, Agnieszka; Clissold, Rhian; Shaw-Smith, Charles; Munshi, Raj; Haws, Robert M; Izzi, Claudia; Capelli, Irene; Santostefano, Marisa; Graziano, Claudio; Scolari, Francesco; Sussman, Amy; Trachtman, Howard; Decramer, Stephane; Matignon, Marie; Grimbert, Philippe; Shoemaker, Lawrence R; Stavrou, Christoforos; Abdelwahed, Mayssa; Belghith, Neila; Sinclair, Matthew; Claes, Kathleen; Kopel, Tal.
Afiliação
  • Zivná M; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Kidd K; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
  • Zaidan M; Service de Néphrologie‒Transplantation, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
  • Vyletal P; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Baresová V; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hodanová K; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Sovová J; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hartmannová H; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Votruba M; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Treslová H; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Jedlicková I; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Sikora J; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hulková H; Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Robins V; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
  • Hnízda A; Department of Biochemistry, University of Cambridge, Cambridge, UK.
  • Zivný J; Institute of Pathophysiology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Papagregoriou G; Center of Excellence in Biobanking and Biomedical Research, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus.
  • Mesnard L; Sorbonne Université, Urgences Néphrologiques et Transplantation Rénale, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Tenon, Paris, France.
  • Beck BB; University of Cologne, Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, Cologne, Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Center for Molecular Medicine Cologne (CMMC) and Center for Rare Diseases Cologneies(ZSEK), Cologne,
  • Wenzel A; University of Cologne, Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, Cologne, Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Center for Molecular Medicine Cologne (CMMC) and Center for Rare Diseases Cologneies(ZSEK), Cologne,
  • Tory K; MTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, Budapest, Hungary; First Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Häeffner K; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, Faculty of Medicine, Universitätsklinikum Freiburg, Freiburg, Germany.
  • Wolf MTF; Pediatric Nephrology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Bleyer ME; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
  • Sayer JA; Renal Services, The Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Ong ACM; Kidney Genetics Group, Academic Nephrology Unit, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UK.
  • Balogh L; First Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Jakubowska A; Department of Pediatric Nephrology Medical University Wroclaw, Poland.
  • Laszkiewicz A; Laboratory of Molecular and Cellular Immunology, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wroclaw, Poland.
  • Clissold R; Exeter Kidney Unit, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, UK.
  • Shaw-Smith C; Exeter Kidney Unit, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, UK.
  • Munshi R; Division of Nephrology, Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.
  • Haws RM; Pediatrics-Nephrology, Marshfield Medical Center, Marshfield, Wisconsin, USA.
  • Izzi C; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and Montichiari Hospital, Brescia, Italy.
  • Capelli I; Department of Experimental Diagnostic and Specialty Medicine, Nephrology, Dialysis and Renal Transplant Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy.
  • Santostefano M; Division of Nephrology, Ospedale Sant'Orsola‒Malpighi, Bologna, Italy.
  • Graziano C; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy.
  • Scolari F; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and Montichiari Hospital, Brescia, Italy.
  • Sussman A; Department of Medicine, Division of Nephrology, University of Arizona Health Sciences Center, Tucson, Arizona, USA.
  • Trachtman H; Division of Nephrology, Department of Pediatrics, New York University School of Medicine, New York, New York, USA.
  • Decramer S; Pediatric Nephrology, Centre Hospitalier Universitaire de Toulouse (CHU de Toulouse), Toulouse, France; France Rare Renal Disease Reference Centre (SORARE), Toulouse, France; Centre Hospitalier Universitaire de Toulouse (CHU de Toulouse), Toulouse, France.
  • Matignon M; AP-HP (Assistance Publique-Hôpitaux de Paris), Nephrology and Renal Transplantation Department, Institut Francilien de Recherche en Néphrologie et Transplantation (IFRNT), Groupe Hospitalier Henri-Mondor/Albert-Chenevier, Créteil, France; Université Paris-Est-Créteil, (UPEC), DHU (Département Hospit
  • Grimbert P; AP-HP (Assistance Publique-Hôpitaux de Paris), Nephrology and Renal Transplantation Department, Institut Francilien de Recherche en Néphrologie et Transplantation (IFRNT), Groupe Hospitalier Henri-Mondor/Albert-Chenevier, Créteil, France; Université Paris-Est-Créteil, (UPEC), DHU (Département Hospit
  • Shoemaker LR; Division of Nephrology, Department of Pediatrics, University of Florida, Gainesville, Florida, USA.
  • Stavrou C; Department of Nephrology, Evangelismos Private Hospital, Pafos, Cyprus.
  • Abdelwahed M; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
  • Belghith N; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia; Medical Genetics Department of Hedi Chaker Hospital, Sfax, Tunisia.
  • Sinclair M; Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina, USA; Duke Clinical Research Institute, Durham, North Carolina, USA.
  • Claes K; Department of Nephrology and Renal Transplantation, University Hospitals Leuven, Leuven, Belgium; Laboratory of Nephrology, Department of Microbiology and Immunology, Katholieke Universiteit (KU) Leuven, Leuven, Belgium.
  • Kopel T; Nephrology Division, University of Montreal Hospital Centre, Hopital Saint-Luc, Montréal, Québec, Canada.
Kidney Int ; 98(6): 1589-1604, 2020 12.
Article em En | MEDLINE | ID: mdl-32750457
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anemia / Doenças Renais Policísticas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anemia / Doenças Renais Policísticas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article