Fibrinogen A alpha-chain amyloidosis: a non-negligible cause of chronic kidney disease in dialysis patients

• Autor(a) principal: Tavares, Isabel
• Data de Publicação: 2017
• Outros Autores: Moreira, Luciana, Costa, Paulo Pinho, Lobato, Luísa
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.18/5437
• topic: Fibrinogen A alpha-chain (AFib) Amyloidosis; Rare Disease; Doenças Genéticas

Background: Fibrinogen A alpha-chain (AFib) amyloidosis is a rare and late-onset disease, that result from amyloidogenic autosomal dominant mutations in the gene-encoding AFib (FGA). Patients invariably develop chronic kidney disease (CKD), typically progressing to end-stage renal failure within 5 years of recognition of renal involvement [1]. In Portugal, four apparently unrelated patients with AFib amyloidosis were identified in the district of Braga, Northern Portugal. They all carried the FGA p.Glu545Val mutation, three were heterozygous and one homozygous [2,3]. This observation led us to assess the prevalence of AFibE526V (p.Glu545Val) amyloidosis among Portuguese patients undergoing hemodialysis in the same district, through genetic screening for the FGA p.Glu545Val mutation.