Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry.
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.
Zalin
A M
AM
Department of Medicine, University of Birmingham, Queen Elizabeth Hospital.
Jones
S
S
Fitch
N J
NJ
Ramsden
D B
DB
D000686:Amyloidosis / Q000235:genetics* / Q000378:metabolism; D016632:Apolipoprotein A-I / Q000032:analysis / Q000235:genetics; D001483:Base Sequence; D005260:Female; D016650:Fluorescein-5-isothiocyanate; D005455:Fluorescent Antibody Technique; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction
D016632:Apolipoprotein A-I; D016650:Fluorescein-5-isothiocyanate