{"created":"2023-06-20T15:50:31.910258+00:00","id":3323,"links":{},"metadata":{"_buckets":{"deposit":"b4a63880-1a65-4765-9d56-88de2ab6b923"},"_deposit":{"created_by":18,"id":"3323","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"3323"},"status":"published"},"_oai":{"id":"oai:redcross.repo.nii.ac.jp:00003323","sets":["99:64:116"]},"author_link":["7252","5787","7674","7631"],"item_5_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2007-03-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"64","bibliographicPageStart":"59","bibliographicVolumeNumber":"12","bibliographic_titles":[{"bibliographic_title":"徳島赤十字病院医学雑誌"},{"bibliographic_title":"Tokushima Red Cross Hospital Medical Journal","bibliographic_titleLang":"en"}]}]},"item_5_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"13年間ジクロロ酢酸ナトリウム（DCA）療法を続けたピルビン酸脱水素酵素複合体（PDHC）欠損症の1女児例を経験した．遺伝子解析ではE１αサブユニット遺伝子の第291番目のグリシンからアルギニンへの変異（G291R）を見いだしたので，遺伝子診断することができた．生後11カ月時に高乳酸血症を伴ったWest症候群を発症した．高乳酸血症の治療薬であるDCAの投与により速やかな乳酸の低下をきたして，シリーズ発作が消失し，痙攣のコントロールができた．その後もDCA の継続投与により，臨床症状は安定した．13歳時の肺炎を契機に人工呼吸器管理となり，気管切開も施行した．その後も時々肺炎に罹患しているが，臨床的には安定している．13年間のDCA療法により血中乳酸値は低下した状態であり，DCAの副作用も認めていない．長期間DCA 療法を継続しえたPDHC 欠損症例の臨床像は非常に貴重なので報告した．","subitem_description_type":"Abstract"}]},"item_5_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifierScheme":"WEKO"}],"names":[{"name":"NAITO, Etsuo"}]}]},"item_5_heading_23":{"attribute_name":"見出し","attribute_value_mlt":[{"subitem_heading_banner_headline":"症例","subitem_heading_language":"ja"}]},"item_5_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"徳島赤十字病院"}]},"item_5_relation_17":{"attribute_name":"関連サイト","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"徳島赤十字病院"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"http://www.tokushima-med.jrc.or.jp/hospital/medical/2007pdf/010.pdf","subitem_relation_type_select":"URI"}}]},"item_5_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1346-9878 ","subitem_source_identifier_type":"ISSN"}]},"item_5_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_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"内藤, 悦雄"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"島川, 清司"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"西村, 美緒"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2013-04-15"}],"displaytype":"simple","filename":"trchmj1201_59-64.pdf","filesize":[{"value":"760.9 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"pdf002129","url":"https://redcross.repo.nii.ac.jp/record/3323/files/trchmj1201_59-64.pdf"},"version_id":"83cc9710-2c5c-4e61-9847-3549cdf6c12b"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"先天性高乳酸血症","subitem_subject_scheme":"Other"},{"subitem_subject":"ピルビン酸脱水素酵素複合体欠損症","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子解析","subitem_subject_scheme":"Other"},{"subitem_subject":"E１αサブユニット遺伝子変異","subitem_subject_scheme":"Other"},{"subitem_subject":"ジクロロ酢酸ナトリウム","subitem_subject_scheme":"Other"},{"subitem_subject":"congenital lactic acidemia, pyruvate dehydrogenase complex deficiency, genetic analysis, mutation in the E１α subunit, sodium dichloroacetate","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"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":"technical report"}]},"item_title":"13年間ジクロロ酢酸ナトリウム療法を続けたＧ291Ｒ変異を有するピルビン酸脱水素酵素複合体欠損症の1女児例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"13年間ジクロロ酢酸ナトリウム療法を続けたＧ291Ｒ変異を有するピルビン酸脱水素酵素複合体欠損症の1女児例"},{"subitem_title":"A Female Patient with Pyruvate Dehydrogenase Complex Deficiency Caused by a Point Mutation of G２９１R Treated with Administration of Sodium Dichloroacetate for １３ Years","subitem_title_language":"en"}]},"item_type_id":"5","owner":"18","path":["116"],"pubdate":{"attribute_name":"公開日","attribute_value":"2013-04-15"},"publish_date":"2013-04-15","publish_status":"0","recid":"3323","relation_version_is_last":true,"title":["13年間ジクロロ酢酸ナトリウム療法を続けたＧ291Ｒ変異を有するピルビン酸脱水素酵素複合体欠損症の1女児例"],"weko_creator_id":"18","weko_shared_id":18},"updated":"2023-06-20T22:02:21.129102+00:00"}