[A sporadic case of late-onset familial amyloid polyneuropathy type I (transthyretin Met 30-associated familial amyloid polyneuropathy) inborn habitant of Ehime prefecture].
We reported a 62-year-old man of late-onset familial amyloid polyneuropathy type I(transthyretin Met 30-associated familial amyloid polyneuropathy) from Ehime Prefecture. There was no family history related to endemic Japanese foci (Nagano and Kumamoto foci). He demonstrated paraesthesia in the legs and mild autonomic symptoms at the age of 52. These symptoms gradually developed. Analysis of the transthyretin gene from his leucocytes demonstrated he had Met 30 transthyretin mutation. Therefore, he was diagnosed with late-onset familial amyloid polyneuropathy type I(FAP 1). In some families, asymptomatic carriers with the mutant transthyretin gene were diagnosed. In early stage, this patient's polyneuropathy and autonomic nervous system dysfunction were less serious than those of FAP 1 patients from endemic Japanese foci. These symptoms of this patient was slowly progressive. He hoped liver transplantation (brain death or living-related) treatment if possible. Now he became 68-year-old and bed-ridden.
Harada
Toshihide
T
Third Department of Internal Medicine, Hiroshima University School of Medicine, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan.
Ishizaki
Fumiko
F
Togo
Masanori
M
Yamashita
Hiroshi
H
Nitta
Kohsaku
K
Date
Yukari
Y
Nakazato
Masamitsu
M
Yamamura
Yasuhiro
Y
Nakamura
Shigenobu
S
D000682:Amyloid / Q000235:genetics; D028227:Amyloid Neuropathies, Familial / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D018450:Disease Progression; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011228:Prealbumin / Q000235:genetics
D000682:Amyloid; D011228:Prealbumin; C041120:amyloid prealbumin