Trastornos moleculares y genéticos en las glomerulopatías causadas por desregulación del complementocorrelaciones genotipo-fenotipo e implicaciones terapéuticas

  1. Caravaca Fontán, Fernando
unter der Leitung von:
  1. Elena Goicoechea de Jorge Doktorvater/Doktormutter
  2. Manuel Praga Terente Doktorvater/Doktormutter

Universität der Verteidigung: Universidad Complutense de Madrid

Fecha de defensa: 11 von November von 2020

Gericht:
  1. José María Aguado García Präsident/in
  2. Maria Angeles Goicoechea Diezhandino Sekretär/in
  3. Mario Espinosa Hernandez Vocal
  4. Gabriel de Arriba de la Fuente Vocal
  5. Gema María Fernandez Juarez Vocal

Art: Dissertation

Zusammenfassung

C3 glomerulopathy (C3G) is a clinicopathological entity secondary to the dysregulation of the alternative complement pathway in plasma and the glomerular microenvironment, and two different entities can be distinguished: C3 glomerulonephritis (C3GN) and dense deposit disease (DDD). The alternative complement dysregulation may be due to genetic abnormalities in complement genes and/or antibodies against complement components.Previous studies showed a therapeutic benefit of corticosteroids plusmycophenolate mofetil (MMF) in this entity, although the genetic and molecular profile of these patients were not systematically analyzed...