{"created":"2023-05-18T10:11:17.101976+00:00","id":3018,"links":{},"metadata":{"_buckets":{"deposit":"0e5fd27d-e791-4e7e-9320-924f0445d242"},"_deposit":{"created_by":5,"id":"3018","owners":[5],"pid":{"revision_id":0,"type":"depid","value":"3018"},"status":"published"},"_oai":{"id":"oai:yamanashi.repo.nii.ac.jp:00003018","sets":["205:251:266"]},"author_link":[],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1999","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"xvi","bibliographicPageStart":"ix","bibliographicVolumeNumber":"14","bibliographic_titles":[{"bibliographic_title":"山梨医科大学雑誌","bibliographic_titleLang":"ja"},{"bibliographic_title":"Yamanashi medical journal","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"内容","attribute_value_mlt":[{"subitem_description":"患者は33歳,男性。既往歴では23歳の時,心電図上,右脚ブロックを指摘されている。5年前より悪心,嘔吐,下痢が出現,4年前より下肢遠位部の筋萎縮を伴う筋力低下による歩行障害が出現し,1年前に入院した。生検により腓腹筋,下肢皮膚,直腸の生検でアミロイドの沈着が証明され,家族性アミロイドポリニューロパチー(FAP I型)と診断された。退院後,外来で経過観察中,症状が悪化したため再入院,るいそうが進行し,呼吸器感染,尿路感染を繰り返し,肺炎が増悪して死亡。剖検の結果,アミロイドの沈着は迷走神経,腹腔神経節,交感神経幹,骨盤神経叢,脊髄神経,大腿神経,肋間神経の他,骨格筋,平滑筋,心筋,皮膚,甲状腺,精巣,前立腺等広範囲に認め,死因は肺うっ血水腫と気管支肺炎による呼吸不全と診断された。本症はトランスサイレチン(TTR)の遺伝子異常による遺伝性疾患であり,治療法として異型TTR産生肝に代わる肝移植の有効例も報告されているが,本症例では対症療法に終始せざるを得なかった。なお本例のTTR遺伝子異常は現在解析中である。","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_10001_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.34429/00003011","subitem_identifier_reg_type":"JaLC"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"山梨医科大学医学会","subitem_publisher_language":"ja"}]},"item_10001_source_id_11":{"attribute_name":"NCID","attribute_value_mlt":[{"subitem_source_identifier":"AN10044054","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0912-0025","subitem_source_identifier_type":"ISSN"}]},"item_10001_text_4":{"attribute_name":"タイトルヨミ","attribute_value_mlt":[{"subitem_text_language":"ja-Kana","subitem_text_value":"ダイ16カイ ヤマナシ イカ ダイガク CPC キロク イデンシ イジョウ オ トモナッタ カゾクセイ アミロイドポリニューロパチー"}]},"item_10001_version_type_20":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-02-27"}],"displaytype":"detail","filename":"AN10044054_14_02_06.pdf","filesize":[{"value":"706.9 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"AN10044054_14_02_06.pdf","objectType":"fulltext","url":"https://yamanashi.repo.nii.ac.jp/record/3018/files/AN10044054_14_02_06.pdf"},"version_id":"75669360-8ace-4377-83c3-8a31c1d9f860"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"第16回山梨医科大学CPC記録:遺伝子異常を伴った家族性アミロイドポリニューロパチー","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"第16回山梨医科大学CPC記録:遺伝子異常を伴った家族性アミロイドポリニューロパチー","subitem_title_language":"ja"}]},"item_type_id":"10001","owner":"5","path":["266"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2010-05-18"},"publish_date":"2010-05-18","publish_status":"0","recid":"3018","relation_version_is_last":true,"title":["第16回山梨医科大学CPC記録:遺伝子異常を伴った家族性アミロイドポリニューロパチー"],"weko_creator_id":"5","weko_shared_id":-1},"updated":"2023-10-11T07:33:23.142789+00:00"}