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Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis
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Orientador(es)
Resumo(s)
Introduction: Fibrinogen Aa chain (AFib) amyloidosis is an autosomal
dominant disease that typically presents with predominant
renal involvement and has a predictable progressive clinical
course [1]. The p.Glu545Val AFib gene (FGA) mutation is
at the origin of all AFib amyloidosis cases (AFibE526V
[p.Glu545Val]) that have been identified in Portugal so far,
and accounts for the disease in 17 families.
Current treatment of AFib amyloidosis comprises both
supportive measures and disease-modifying approaches,
such as liver transplantation [2,3]. Renal transplantation
(RTx) is a supportive therapy with risk of premature graft
loss due to amyloid recurrence or other unexpected complications
related to progression of extrarenal amyloid deposition.
The aim of this study was to evaluate the outcome of
Portuguese patients with AFibE526V (p.Glu545Val) amyloidosis
after RTx.
Descrição
Palavras-chave
Adult Aged Amino Acid Substitution Female Humans Male Middle Aged Amyloidosis Fibrinogen Graft Rejection Kidney Transplantation Mutation, Missense Doenças Genéticas
Contexto Educativo
Citação
Amyloid. 2019;26(Supl1):162-163. doi: 10.1080/13506129.2019.1583196. Epub 2019 Jul 25
Editora
Taylor & Francis