Fibrinogen A alpha-chain amyloidosis: Report of the first case in Latin America

Juliana Reis Machado, Marcos Vinícius Da Silva, Precil Diego Miranda De Menezes Neves, Flavia Aparecida De Oliveira, Rosana Rosa Miranda Corrêa, Willians Vinícius Dutra Rodrigues, Merril Benson, Marlene Antônia Dos Reis

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2 Scopus citations

Abstract

Background: Hereditary fibrinogen A alpha-chain (AFib) amyloidosis affects different organs, especially the kidneys. No case of this disease has been reported in Latin America. Case report: A 52-year-old previously healthy Brazilian woman presented with a seven-month history of proteinuria in the absence of hematuria. The patient had normal blood pressure and reported no other symptoms. A renal biopsy was obtained and light microscopy revealed the presence of Congo red positive deposits (apple-green birefringence under polarized light) only in the glomerular compartment. These deposits were strongly immunoreactive to fibrinogen in all glomeruli. Electron microscopy showed the presence of organized deposits compatible with AFib. The diagnosis was confirmed by DNA analysis of the AFib gene, which demonstrated a Glu526Val mutation in one allele. Conclusion: This first description of hereditary AFib amyloidosis in Latin America highlights the need to include this type of amyloidosis in the differential diagnosis, especially in Brazil where the degree of miscegenation is high.

Original languageEnglish (US)
Pages (from-to)52-55
Number of pages4
JournalAmyloid
Volume20
Issue number1
DOIs
StatePublished - Mar 1 2013

Keywords

  • Biopsy
  • Fibrinogen A
  • Glu526Val
  • Hereditary disease
  • Kidney

ASJC Scopus subject areas

  • Internal Medicine

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    Machado, J. R., Silva, M. V. D., Neves, P. D. M. D. M., Oliveira, F. A. D., Corrêa, R. R. M., Rodrigues, W. V. D., Benson, M., & Reis, M. A. D. (2013). Fibrinogen A alpha-chain amyloidosis: Report of the first case in Latin America. Amyloid, 20(1), 52-55. https://doi.org/10.3109/13506129.2012.763029