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Publication
Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing
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Advisor(s)
Abstract(s)
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.
Description
Keywords
Aged Amyloidosis Female Fibrinogen Genetic Testing Humans Kidney Diseases Male Middle Aged Retrospective Studies Mutation Doenças Genéticas
Pedagogical Context
Citation
Am J Kidney Dis. 2017 Aug;70(2):235-243. doi: 10.1053/j.ajkd.2017.01.048. Epub 2017 Mar 27.
Publisher
Elsevier/National Kidney Foundation