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Familial Nephropathic Non-neuropathic Amyloidosis: Clinical Features, Immunohistochemistry and Chemistry

AM ZALIN, S JONES, NJS FITCH, DB RAMSDEN
DOI: http://dx.doi.org/ 945-956 First published online: 1 November 1991

Abstract

Classification of familial amyloidosis by the chemical nature of the fibrillar protein has become possible. Most such amyloidogenic proteins so far recognized are variant transthyretins, but two kindreds with the same apolipoprotein AI modification have been reported. We describe the clinical features of another such family in whom petechial skin rash appeared to be a marker for the disease, which was non-neuropathic and of the Ostertag-type. Immunohistochemistry showed the protein to be apolipoprotein AI, but allele-specific DNA amplification indicated that it was not the Arg26 variant previously identified.