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, Merrill Benson, Marlene Antônia Dos Reis

Research output: Contribution to journalArticle

2 Citations (Scopus)

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

Fingerprint

Latin America
Amyloidosis
Fibrinogen
Familial Amyloidosis
Birefringence
Kidney
Light
Congo Red
Hematuria
Proteinuria
Brazil
Microscopy
Electron Microscopy
Differential Diagnosis
Alleles
Blood Pressure
Biopsy
Mutation
DNA
Genes

Keywords

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

ASJC Scopus subject areas

  • Internal Medicine

Cite this

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., ... 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

Fibrinogen A alpha-chain amyloidosis : Report of the first case in Latin America. / Machado, Juliana Reis; Silva, Marcos Vinícius Da; Neves, Precil Diego Miranda De Menezes; Oliveira, Flavia Aparecida De; Corrêa, Rosana Rosa Miranda; Rodrigues, Willians Vinícius Dutra; Benson, Merrill; Reis, Marlene Antônia Dos.

In: Amyloid, Vol. 20, No. 1, 03.2013, p. 52-55.

Research output: Contribution to journalArticle

Machado, JR, Silva, MVD, Neves, PDMDM, Oliveira, FAD, Corrêa, RRM, Rodrigues, WVD, Benson, M & Reis, MAD 2013, 'Fibrinogen A alpha-chain amyloidosis: Report of the first case in Latin America', Amyloid, vol. 20, no. 1, pp. 52-55. https://doi.org/10.3109/13506129.2012.763029
Machado JR, Silva MVD, Neves PDMDM, Oliveira FAD, Corrêa RRM, Rodrigues WVD et al. Fibrinogen A alpha-chain amyloidosis: Report of the first case in Latin America. Amyloid. 2013 Mar;20(1):52-55. https://doi.org/10.3109/13506129.2012.763029
Machado, Juliana Reis ; Silva, Marcos Vinícius Da ; Neves, Precil Diego Miranda De Menezes ; Oliveira, Flavia Aparecida De ; Corrêa, Rosana Rosa Miranda ; Rodrigues, Willians Vinícius Dutra ; Benson, Merrill ; Reis, Marlene Antônia Dos. / Fibrinogen A alpha-chain amyloidosis : Report of the first case in Latin America. In: Amyloid. 2013 ; Vol. 20, No. 1. pp. 52-55.
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