Case Report: A Rare Truncating Variant of the
CFH
CFHR5
IgA nephropathy
atypical hemolytic uremic syndrome
complement
eculizumab
thrombotic microangiopathy (TA-TMA)
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
03
04
2020
accepted:
22
04
2021
entrez:
5
7
2021
pubmed:
6
7
2021
medline:
6
7
2021
Statut:
epublish
Résumé
IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Despite appropriate therapy, 20-40% of affected-patients evolve toward end-stage kidney disease (ESKD). Mesangial IgA deposits are the hallmark of IgAN, and complement deposition (C3) seems to differentiate latent IgA mesangial deposits from active IgAN. Atypical hemolytic uremic syndrome (aHUS), another disease in which complement plays an important role, is caused by inherited or acquired deregulation of the alternative pathway (AP) of complement. A subgroup of IgAN shows thrombotic microangiopathy (TMA) lesions in kidney biopsies, the histological characteristic of aHUS. Genetic variants of complement Factor H (CFH), known to be present in aHUS, have been associated with rapidly progressive forms of IgAN and a clinical pattern of aHUS. Genome-wide association studies (GWAS) have confirmed that the 1q32 region, encoding for
Identifiants
pubmed: 34220921
doi: 10.3389/fgene.2021.529236
pmc: PMC8244589
doi:
Types de publication
Case Reports
Langues
eng
Pagination
529236Informations de copyright
Copyright © 2021 Guzzo, Sadallah, Fodstad, Venetz, Rotman, Teta, Gauthier, Pantaleo, Superti-Furga and Pascual.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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