C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis

Xue Xiao; Matthew C Pickering; Richard J H Smith

doi:10.1055/s-0034-1376334

Back

C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis

Journal article

Peer reviewed

C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis

Xue Xiao, Matthew C Pickering and Richard J H Smith

Seminars in thrombosis and hemostasis, Vol.40(4), pp.465-471

06/2014

DOI: 10.1055/s-0034-1376334

PMID: 24799308

View Online

Abstract

C3 glomerulopathy (C3G) defines a group of very rare renal diseases in which dysregulation of the alternative and terminal complement pathways plays a pivotal pathogenic role. Dysregulation is driven by genetic and/or acquired defects, with interindividual variability giving rise to two broad subtypes of C3G-dense deposit disease (DDD) and C3 glomerulonephritis (C3GN). Patient evaluation should include genetic testing and biomarker profiling of complement activity. There is currently no effective targeted treatment option for C3G and, as a consequence, a variety of supportive measures are used. C3G remains an ideal disease in which new complement therapies can be tested as they become available. Trials must include a comprehensive evaluation of each patient at the genetic and biomarker level so that individual responses to therapy can be predicted and understood in light of the degree of complement dysregulation and underlying pathology.

Biomarkers - metabolism

Humans

Kidney Glomerulus - pathology

Immunity, Innate

Kidney Diseases - genetics

Complement C3 - immunology

Genetic Variation

Kidney Diseases - immunology

Glomerulonephritis, Membranoproliferative - genetics

Glomerulonephritis, Membranoproliferative - immunology

Phenotype

Alleles

Kidney Glomerulus - immunology

Complement Pathway, Alternative

Details

Title: Subtitle: C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis
Creators: Xue Xiao - Interdisciplinary PhD Program in Genetics, Carver College of Medicine, University of Iowa, Iowa City, Iowa
Matthew C Pickering - Centre for Complement and Inflammation Research, Imperial College, London, United Kingdom
Richard J H Smith - Interdisciplinary PhD Program in Genetics, Carver College of Medicine, University of Iowa, Iowa City, Iowa
Resource Type: Journal article
Publication Details: Seminars in thrombosis and hemostasis, Vol.40(4), pp.465-471
DOI: 10.1055/s-0034-1376334
PMID: 24799308
NLM abbreviation: Semin Thromb Hemost
ISSN: 0094-6176
eISSN: 1098-9064
Publisher: United States
Grant note: 098476 / Wellcome Trust
Language: English
Date published: 06/2014
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006463702771

Metrics

60 Record Views

40 Times Cited - Web of Science

See more details