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Fibrinogen A alpha-chain amyloidosis: a non-negligible cause of chronic kidney disease in dialysis patients
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Orientador(es)
Resumo(s)
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.
Descrição
Palavras-chave
Fibrinogen A alpha-chain (AFib) Amyloidosis Rare Disease Doenças Genéticas
Contexto Educativo
Citação
Amyloid. 2017 Mar;24(sup1):153-154. doi: 10.1080/13506129.2017.1281119.
Editora
Taylor & Francis/Informa Healthcare