Evaluation of Serum Variant Prealbumin Levels, and its Behavior after Plasma Exchange for Familial Amyloidotic Polyneuropathy (Type 1)
Type 1 familial amyloidotic polyneuropathy (FAP) is an autosomal dominant systemic amyloidosis, characterized by extracellular amyloid deposition and sensory dominant polyneuropathy accompanied by autonomic dysfunction.1 2. Biochemical research disclosed that the amyloid fibril protein in type 1 FAP consists of a variant prealbumin (PA) (transthyretin), due to a single amino acid substitution, a methionine for valine at position 30.3 5 Recently, FAP and its carrier state were identified by the detection of the variant PA in serum.6 9
KeywordsPlasma Exchange Homoserine Lactone Familial Amyloidotic Polyneuropathy Cellulose Bead Asymptomatic Family Member
Unable to display preview. Download preview PDF.
- 11.M. Ide, S. Mita, S. Ikegawa, S. Maeda, K. Shimada, S. Araki, Identification of carriers of mutant prealbumin gene associated with familial amyloidotic polyneuropathy type 1 by Southern blot procedures; study of six pedigrees in the Arao district of Japan, Hum Genet., 73:281–285 (1986)CrossRefGoogle Scholar
- 12.C. J. Rosenthal, R.W. Kula, N. Solomon, R. Devita, Plasma exchange in the treatment of patients with systemic amyloidosis, in Amyloidosis. Glenner G.G., Osserman E. F., Benditt E. P., Calkins E, Cohen A.S. and Zucker-Franklin D, eds) Plenum Publishing Corporation, New York, p 629–637 (1984)Google Scholar