换一批
换一批An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
作者：
Martina,Živná [1]
;
Kendrah,Kidd [2]
;
Mohamad,Zaidan [3]
;
Petr,Vyleťal [1]
;
Veronika,Barešová [1]
;
Kateřina,Hodaňová [1]
;
Jana,Sovová [1]
;
Hana,Hartmannová [1]
;
Miroslav,Votruba [1]
;
Helena,Trešlová [1]
;
Ivana,Jedličková [1]
;
Jakub,Sikora [1]
;
Helena,Hůlková [1]
;
Victoria,Robins [4]
;
Aleš,Hnízda [5]
;
Jan,Živný [6]
;
Gregory,Papagregoriou [7]
;
Laurent,Mesnard [8]
;
Bodo B,Beck [9]
;
Andrea,Wenzel [9]
;
Kálmán,Tory [10]
;
Karsten,Häeffner [11]
;
Matthias T F,Wolf [12]
;
Michael E,Bleyer [4]
;
John A,Sayer [13]
;
Albert C M,Ong [14]
;
Lídia,Balogh [15]
;
Anna,Jakubowska [16]
;
Agnieszka,Łaszkiewicz [17]
;
Rhian,Clissold [18]
;
Charles,Shaw-Smith [18]
;
Raj,Munshi [19]
;
Robert M,Haws [20]
;
Claudia,Izzi [21]
;
Irene,Capelli [22]
;
Marisa,Santostefano [23]
;
Claudio,Graziano [24]
;
Francesco,Scolari [21]
;
Amy,Sussman [25]
;
Howard,Trachtman [26]
;
Stephane,Decramer [27]
;
Marie,Matignon [28]
;
Philippe,Grimbert [29]
;
Lawrence R,Shoemaker [30]
;
Christoforos,Stavrou [31]
;
Mayssa,Abdelwahed [32]
;
Neila,Belghith [33]
;
Matthew,Sinclair [34]
;
Kathleen,Claes [35]
;
Tal,Kopel [36]
;
Sharon,Moe [37]
;
Constantinos,Deltas [7]
;
Bertrand,Knebelmann [38]
;
Luca,Rampoldi [39]
;
Stanislav,Kmoch [2]
;
Anthony J,Bleyer [40]
作者单位：
Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
[1]
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.
[2]
Service de Néphrologie‒Transplantation, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
[3]
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
[4]
Department of Biochemistry, University of Cambridge, Cambridge, UK.
[5]
Institute of Pathophysiology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
[6]
Center of Excellence in Biobanking and Biomedical Research, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus.
[7]
Sorbonne Université, Urgences Néphrologiques et Transplantation Rénale, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Tenon, Paris, France.
[8]
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, Germany.
[9]
MTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, Budapest, Hungary; First Department of Pediatrics, Semmelweis University, Budapest, Hungary.
[10]
Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, Faculty of Medicine, Universitätsklinikum Freiburg, Freiburg, Germany.
[11]
Pediatric Nephrology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
[12]
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.
[13]
Kidney Genetics Group, Academic Nephrology Unit, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UK.
[14]
First Department of Pediatrics, Semmelweis University, Budapest, Hungary.
[15]
Department of Pediatric Nephrology Medical University Wrocław, Poland.
[16]
Laboratory of Molecular and Cellular Immunology, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland.
[17]
Exeter Kidney Unit, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, UK.
[18]
Division of Nephrology, Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.
[19]
Pediatrics-Nephrology, Marshfield Medical Center, Marshfield, Wisconsin, USA.
[20]
Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and Montichiari Hospital, Brescia, Italy.
[21]
Department of Experimental Diagnostic and Specialty Medicine, Nephrology, Dialysis and Renal Transplant Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy.
[22]
Division of Nephrology, Ospedale Sant'Orsola‒Malpighi, Bologna, Italy.
[23]
Medical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy.
[24]
Department of Medicine, Division of Nephrology, University of Arizona Health Sciences Center, Tucson, Arizona, USA.
[25]
Division of Nephrology, Department of Pediatrics, New York University School of Medicine, New York, New York, USA.
[26]
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.
[27]
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 Hospitalo-Universitaire) VIC (Virus-Immunité-Cancer), IMRB (Institut Mondor de Recherche Biomédicale), Equipe 21, INSERM U 955, Créteil, France.
[28]
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 Hospitalo-Universitaire) VIC (Virus-Immunité-Cancer), IMRB (Institut Mondor de Recherche Biomédicale), Equipe 21, INSERM U 955, Créteil, France; AP-HP (Assistance Publique-Hôpitaux de Paris), CIC-BT 504, Créteil, France.
[29]
Division of Nephrology, Department of Pediatrics, University of Florida, Gainesville, Florida, USA.
[30]
Department of Nephrology, Evangelismos Private Hospital, Pafos, Cyprus.
[31]
Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
[32]
Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia; Medical Genetics Department of Hedi Chaker Hospital, Sfax, Tunisia.
[33]
Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina, USA; Duke Clinical Research Institute, Durham, North Carolina, USA.
[34]
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.
[35]
Nephrology Division, University of Montreal Hospital Centre, Hopital Saint-Luc, Montréal, Québec, Canada.
[36]
Division of Nephrology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
[37]
Department of Nephrology‒Transplantation, Necker Hospital, APHP, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Paris, France; Département Biologie cellulaire, INSERM U1151, Institut Necker Enfants Malades, Paris, France.
[38]
Molecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
[39]
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. Electronic address: ableyer@wakehealth.edu.
[40]
主题词
成年人(Adult);贫血(Anemia);儿童(Child);队列研究(Cohort Studies);女(雌)性(Female);人类(Humans);男(雄)性(Male);突变(Mutation);多囊肾疾病(Polycystic Kidney Diseases);肾素(Renin);青年人(Young Adult)
DOI
10.1016/j.kint.2020.06.041
PMID
32750457
发布时间
2021-12-03
- 浏览2
Kidney international
Kidney international
1589-1604页
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