Hot Spot of Complement Factor I Rare Variant p.Ile357Met in Patients With Hemolytic Uremic Syndrome.

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第一作者： Nora,Schwotzer

第一单位： Service of Nephrology and Hypertension, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. Electronic address: nora.schwotzer@chuv.ch.

作者： Nora,Schwotzer ^[1] ; Fadi,Fakhouri ^[2] ; Paula Vieira,Martins ^[3] ; Yahsou,Delmas ^[4] ; Sophie,Caillard ^[5] ; Julien,Zuber ^[6] ; Olivier,Moranne ^[7] ; Laurent,Mesnard ^[8] ; Véronique,Frémeaux-Bacchi ^[9] ; Carine,El-Sissy ^[3]

作者单位： Service of Nephrology and Hypertension, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. Electronic address: nora.schwotzer@chuv.ch. ^[1] Service of Nephrology and Hypertension, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. ^[2] Department of Nephrology, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Paris University, Paris, France. ^[3] Nephrology Department, CHU de Bordeaux Bordeaux, France. ^[4] Nephrology Department, Strasbourg University Hospital, Strasbourg, France. ^[5] Department of Renal and Metabolic Diseases, Transplantation, and Clinical Immunology Assistance Publique-Hôpitaux de Paris, Hôpital Necker, Paris, France. ^[6] Department of Nephrology, Dialysis and Apheresis, Nîmes Hôpital Universitaire, Nîmes, France. ^[7] Sorbonne Université, Paris, France; Nephrology Intensive Care Unit, Hôpital Tenon, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. ^[8] Department of Nephrology, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Paris University, Paris, France; Inflammation, Complement and Cancer Team, Cordeliers Research Center, INSERM Unité Mixte de Recherche (UMR) S1138, Paris, France. ^[9]

关键词 Atypical HUS C3 glomerulopathy CFI Complement factor I aHUS p.Ile357Met