Three German fibrinogen Aalpha-chain amyloidosis patients with the p.Glu526Val mutation.

doi:10.1007/s00428-008-0619-4

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Article

Three German fibrinogen Aalpha-chain amyloidosis patients with the p.Glu526Val mutation.

Virchows Archiv : an international journal of pathology - 1 Jul 2008

Eriksson Magdalena, Schönland Stefan, Bergner Raoul, Hegenbart Ute, Lohse Peter, Schmidt Hartmut, Röcken Christoph

Abstract excerpt

Plasma protein fibrinogen variants cause fibrinogen A alpha-chain (AFib) amyloidosis, which presents with hypertension, proteinuria, and azotemia. Six AFib mutations have been reported thus far. We identified three patients who presented with marked proteinuria and serum creatinine elevations. Their kidney biopsies revealed destruction of the glomerular architecture by amyloid deposits with typical, apple-green...

Topics

Amyloidosis
Biopsy
Diagnosis, Differential
Exons
Female
Fibrinogen
Genetic Predisposition to Disease
Germany
Humans
Kidney
Male
Middle Aged
Mutation
Pedigree
White People

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Open in PubMed

Identifiers

PMID: 18500534
DOI: 10.1007/s00428-008-0619-4

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