Your browser doesn't support javascript.
loading
Normalization of C1 Inhibitor in a Patient with Hereditary Angioedema.
Peters, Nicholas E; Mac Lochlainn, Dylan J; Dhalla, Fatima; Howarth, Lucy; Gupte, Girish L; Sharif, Khalid; Jain, Rashmi; Kelly, Dominic; Patel, Smita Y.
Afiliación
  • Peters NE; From the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine (F.D.) and the Department of Paediatrics (F.D., D.K.), University o
  • Mac Lochlainn DJ; From the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine (F.D.) and the Department of Paediatrics (F.D., D.K.), University o
  • Dhalla F; From the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine (F.D.) and the Department of Paediatrics (F.D., D.K.), University o
  • Howarth L; From the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine (F.D.) and the Department of Paediatrics (F.D., D.K.), University o
  • Gupte GL; From the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine (F.D.) and the Department of Paediatrics (F.D., D.K.), University o
  • Sharif K; From the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine (F.D.) and the Department of Paediatrics (F.D., D.K.), University o
  • Jain R; From the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine (F.D.) and the Department of Paediatrics (F.D., D.K.), University o
  • Kelly D; From the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine (F.D.) and the Department of Paediatrics (F.D., D.K.), University o
  • Patel SY; From the Departments of Clinical Immunology (N.E.P., D.J.M.L., F.D., R.J., S.Y.P.) and Pediatric Gastroenterology (L.H.), Oxford University Hospitals NHS Foundation Trust, and the Institute of Developmental and Regenerative Medicine (F.D.) and the Department of Paediatrics (F.D., D.K.), University o
N Engl J Med ; 391(1): 56-59, 2024 Jul 04.
Article en En | MEDLINE | ID: mdl-38959481
ABSTRACT
Hereditary angioedema is a potentially life-threatening autosomal dominant condition, causing attacks of angioedema due to failure to regulate bradykinin. Nearly all cases of hereditary angioedema are caused by mutations in the gene encoding C1 inhibitor, SERPING1. C1 inhibitor is a multifunctional protein produced in the liver that regulates the kallikrein-kinin system at multiple points. An infant with genetically confirmed hereditary angioedema and low C1 inhibitor levels (but without previous episodes of angioedema) underwent liver transplantation for biliary atresia, an unrelated condition. Liver transplantation led to normalization of the C1 inhibitor level and function. To our knowledge, this represents the first patient to be potentially cured of hereditary angioedema.
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trasplante de Hígado / Proteína Inhibidora del Complemento C1 / Angioedemas Hereditarios Límite: Female / Humans / Infant / Male Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trasplante de Hígado / Proteína Inhibidora del Complemento C1 / Angioedemas Hereditarios Límite: Female / Humans / Infant / Male Idioma: En Año: 2024 Tipo del documento: Article