Author(s): Tavares, Isabel ; Oliveira, João Paulo ; Pinho, Ana ; Moreira, Luciana ; Rocha, Liliana ; Santos, Josefina ; Pinheiro, Joaquim ; Costa, Paulo Pinho ; Lobato, Luísa
Date: 2017
Persistent ID: http://hdl.handle.net/10400.18/5471
Origin: Repositório Científico do Instituto Nacional de Saúde
Subject(s): Aged; Amyloidosis; Female; Fibrinogen; Genetic Testing; Humans; Kidney Diseases; Male; Middle Aged; Retrospective Studies; Mutation; Doenças Genéticas
Fibrinogen A α-chain (AFib) amyloidosis results from autosomal-dominant mutations in the gene encoding AFib (FGA). Patients with this disorder typically present with proteinuria. Isolated cases of AFib amyloidosis, carrying the FGA p.Glu545Val variant, were identified in the district of Braga, in northwest Portugal. This observation led us to hypothesize that this disorder might be an unrecognized cause of kidney disease in that region and prompted us to carry out targeted genetic testing for the p.Glu545Val variant in the local hemodialysis population and family members of identified cases.
