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フルテキストURLB030052000407.pdf ( 678.2KB ) 公開日 2010-04-19
タイトル家族性アミロイドポリニューロパチーの1例 : 山口県における第1例目の報告
タイトルヨミカゾクセイ アミロイドポリニューロパチー ノ 1レイ : ヤマグチケン ニオケル ダイ1レイメ ノ ホウコク
タイトル別表記Report of a case with val 30 met transthyretin type familial amyloid polyneuropathy. The first case from Yamaguchi prefecture.
作成者柿沼, 進
田阪, 一平
根来, 清
森松, 光紀
星井, 嘉信
石原, 得博
大庭, 幸生
作成者ヨミカキヌマ, ススム
タサカ, イッペイ
ネゴロ, キヨシ
モリマツ, ミツノリ
ホシイ, ヨシノブ
イシハラ, トクヒロ
オオバ, ユキオ
作成者別表記Kakinuma, Susumu
Tasaka, Ippei
Negoro, Kiyoshi
Morimatsu, Mitsunori
Hoshii, Yoshinobu
Ishihara, Tokuhiro
Ohba, Yukio
作成者所属山口大学医学部
内容記述(抄録等)The case is a 38-year-old man with slowly progressive painful dysesthesia on his feet of two-year history. He said his mother, born in Ohmuta, Fukuoka prefecture, had the same symptoms, had arrhythmia with implanted pacemaker, and died of renal failure. He had mild weakness of distal leg muscles and disturbed sensation of heat and pain below ankles, mildly impaired sensation of touch in his legs with preserved vibration sense. Tendon reflexes were mildly diminished. Electrocardiogram revealed QS pattern in anterior chest leads with left axis deviation. Sural nerve biopsy specimen showed moderate loss of myelinated fibers with amyloid deposits within the nerve fascicle. By immunohistochemistry method, deposits were of transthyretin origin. Blood specimen were sent to Third Department of Internal Medicine, Miyazaki Medical College for identification of transthyretin gene mutation, which revealed a point mutation of valine to methionine at codon 30. Although this case is not purely of Yamaguchi-borne because he had his ancestor in Fukuoka prefecture which is not far away from the endemic focus of FAP, Kumamoto, we believe it is worth reporting because this is the first proved case of FAP from Yamaguchi prefecture.
本文言語jpn
著者キーワードFamilial amyloid polyneuropathy
Val 30 Met transthyretin type
主題医学
資料タイプtext
ファイル形式application/pdf
出版者山口大学医学会
出版者ヨミヤマグチ ダイガク イガッカイ
NII資料タイプ学術雑誌論文
査読の有無査読あり
ISSN0513-1731
NCIDAN00243156
学内刊行物(紀要等)山口医学
掲載誌名山口医学
52
4
開始ページ135
終了ページ139
発行日2003-08-31
関連情報URL(IsVersionOf)http://ci.nii.ac.jp/naid/110002773848/
権利関係本文データは山口大学医学会の許諾に基づきCiNiiから複製したものである
著者版/出版社版出版社版
リポジトリIDB030052000407
地域区分山口大学
URIhttp://www.lib.yamaguchi-u.ac.jp/yunoca/handle/B030052000407