Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.

Valleix, S.; Gillmore, J.; Bridoux, F.; Mangione, P.; Dogan, A.; Nedelec, B.; Boimard, Mathieu; Touchard, G.; Goujon, J.; Lacombe, Corinne; Lozeron, P.; Adams, D.; Lacroix, C.; Maisonobe, T.; Planté-Bordeneuve, V.; Vrana, J.; Theis, J.; Giorgetti, S.; Porcari, Riccardo; Ricagno, S.; Bolognesi, M.; Stoppini, M.; Delpech, M.; Pepys, M.; Hawkins, P.; Bellotti, V.

doi:10.1056/NEJMoa1201356

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Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.

Shared by NobleBlocks on Jun 1, 2012 • 12:00 AM UTC

Authors:

Valleix S

Gillmore JD

Bridoux F

Abstract

We describe a kindred with slowly progressive gastrointestinal symptoms and autonomic neuropathy caused by autosomal dominant, hereditary systemic amyloidosis. The amyloid consists of Asp76Asn variant β(2)-microglobulin. Unlike patients with dialysis-related amyloidosis caused by sustained high plas...

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