Publication: Trastornos moleculares y genéticos en las glomerulopatías causadas por desregulación del complemento. Correlaciones genotipo-fenotipo e implicaciones terapéuticas
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2021-07-16
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Universidad Complutense de Madrid
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Abstract
La glomerulopatía C3 (GC3) es una entidad clínico-patológica secundaria a una desregulación de la vía alternativa del complemento en plasma y el microentorno glomerular, distinguiéndose la glomerulonefritis C3 (GNC3) y la enfermedad por depósitos densos (EDD). La desregulación del complemento puede ser debida a alteraciones genéticas en genes del complemento y/o autoanticuerpos frente a diferentes componentes del complemento. Estudios previos han mostrado un beneficio terapéutico de la pauta de esteroides y micofenolato mofetil (MMF) en esta entidad, aunque el perfil genético-molecular de estos pacientes no fue estudiado de forma sistemática...
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...
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...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Medicina, leída el 11/11/2020