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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Nodular macroglossia with combined light chain and beta-2 microglobulin deposition in a long-term dialysis patient.

We describe a case in which nodular macroglossia, a very rare type of tongue involvement, was associated with the co-deposition of lambda light chain and beta-2 microglobulin fibrils in the tongue. The combined presence of two different amyloid fibrils did not lead to a more unfavourable clinical outcome. We believe that both these features often remain underdiagnosed and are in fact more frequent than reported. A careful clinical examination of the tongue together with serum immunofixation should be routine in all patients with dialysis-related amyloidosis in order to investigate the prevalence and type of tongue involvement and to rule out other types of amyloidosis. In all cases of suspected mixed amyloidosis, immunohistochemical characterization of fibrils should be carried out by electron microscopy.[1]

References

  1. Nodular macroglossia with combined light chain and beta-2 microglobulin deposition in a long-term dialysis patient. Bandini, S., Bergesio, F., Conti, P., Mancini, G., Cerretini, C., Cirami, C., Rosati, A., Caselli, G.M., Arbustini, E., Merlini, G., Ficarra, G., Salvadori, M. J. Nephrol. (2001) [Pubmed]
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