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Hot Spot of Complement Factor I Rare Variant p.Ile357Met in Patients With Hemolytic Uremic Syndrome.
Schwotzer, Nora; Fakhouri, Fadi; Martins, Paula Vieira; Delmas, Yahsou; Caillard, Sophie; Zuber, Julien; Moranne, Olivier; Mesnard, Laurent; Frémeaux-Bacchi, Véronique; El-Sissy, Carine.
Afiliación
  • Schwotzer N; Service of Nephrology and Hypertension, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. Electronic address: nora.schwotzer@chuv.ch.
  • Fakhouri F; Service of Nephrology and Hypertension, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Martins PV; Department of Nephrology, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Paris University, Paris, France.
  • Delmas Y; Nephrology Department, CHU de Bordeaux Bordeaux, France.
  • Caillard S; Nephrology Department, Strasbourg University Hospital, Strasbourg, France.
  • Zuber J; Department of Renal and Metabolic Diseases, Transplantation, and Clinical Immunology Assistance Publique-Hôpitaux de Paris, Hôpital Necker, Paris, France.
  • Moranne O; Department of Nephrology, Dialysis and Apheresis, Nîmes Hôpital Universitaire, Nîmes, France.
  • Mesnard L; Sorbonne Université, Paris, France; Nephrology Intensive Care Unit, Hôpital Tenon, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Frémeaux-Bacchi V; 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.
  • El-Sissy C; Department of Nephrology, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Paris University, Paris, France.
Am J Kidney Dis ; 84(2): 244-249, 2024 08.
Article en En | MEDLINE | ID: mdl-38423159
ABSTRACT
Atypical hemolytic uremic syndrome (aHUS) is a rare kidney disease due to a dysregulation of the complement alternative pathway. Complement factor I (CFI) negatively regulates the alternative pathway and CFI gene rare variants have been associated to aHUS with a low disease penetrance. We report 10 unrelated cases of HUS associated to a rare CFI variant, p.Ile357Met (c.1071T>G). All patients with isolated p.Ile357Met CFI missense variant were retrospectively identified among patients included between January 2007 and January 2022 in the French HUS Registry. We identified 10 unrelated patients (70% women; median age at HUS diagnosis, 36.5 years) who carry the same rare variant p.Ile357Met in the CFI gene. Seven patients (cases 1-7) presented with aHUS in the native kidney associated with malignant hypertension in 5 patients. None received a C5 inhibitor. Two of these cases occurred in the peripartum period with complete recovery of kidney function, while 5 of these patients reached kidney failure requiring replacement therapy (KFRT). Four patients with KFRT subsequently underwent kidney transplantation. Three later developed C3 glomerulopathy in their kidney graft, but none had aHUS recurrence. Three other patients (cases 8-10) experienced de novo thrombotic microangiopathy after kidney transplantation, precipitated by various triggers. The rare CFI variant p.Ile357Met appears to be a facilitating genetic factor for HUS and for some forms of secondary HUS.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factor I de Complemento / Síndrome Hemolítico Urémico Atípico Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Kidney Dis Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factor I de Complemento / Síndrome Hemolítico Urémico Atípico Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Kidney Dis Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos