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

  1. Caravaca Fontán, Fernando
Supervised by:
  1. Elena Goicoechea de Jorge Director
  2. Manuel Praga Terente Director

Defence university: Universidad Complutense de Madrid

Fecha de defensa: 11 November 2020

Committee:
  1. José María Aguado García Chair
  2. Maria Angeles Goicoechea Diezhandino Secretary
  3. Mario Espinosa Hernandez Committee member
  4. Gabriel de Arriba de la Fuente Committee member
  5. Gema María Fernandez Juarez Committee member

Type: Thesis

Abstract

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...