{"created":"2023-05-15T16:42:05.580843+00:00","id":16966,"links":{},"metadata":{"_buckets":{"deposit":"b6937c0d-711c-4495-a943-caaf7125423c"},"_deposit":{"created_by":2,"id":"16966","owners":[2],"pid":{"revision_id":0,"type":"depid","value":"16966"},"status":"published"},"_oai":{"id":"oai:nagasaki-u.repo.nii.ac.jp:00016966","sets":["35:36"]},"author_link":["65857","65855","65856"],"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1996-10","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"10","bibliographicPageEnd":"1687","bibliographicPageStart":"1681","bibliographicVolumeNumber":"85","bibliographic_titles":[{"bibliographic_title":"日本内科学会雑誌"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Alport症候群は,感音性難聴や眼異常などを伴い末期腎不全へ進展する遺伝性腎疾患である.遺伝形式には,伴性(X染色体連鎖)優性遺伝型が多いが,その他に,常染色体優性および劣性遺伝型もある.臨床的には血尿と蛋白尿が認められ,ネフローゼ症候群を呈することもある.病理組織的には糸球体基底膜(GBM)の広範な層状化,断列,肥厚,菲薄化などが特徴で,免疫組織学的方法を用いたGBMの分子構造の検討からは, X染色体優性遺伝型において, IV型コラーゲンのα3, α4, α5, α6鎖の異常が明らかに成ってきた.遺伝形式の連鎖解析や, α鎖遺伝子(COL4A5)の突然変異の解析などの成績が少しずつ明らかになって来ている.本疾患の予後は,男性においては30歳台までには末期腎不全に進展する.遺伝子解析が進み,近い将来に遺伝子治療に応用されることが切望される.","subitem_description_type":"Abstract"}]},"item_2_description_63":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"日本内科学会雑誌, 85(10), pp.1681-1687; 1996","subitem_description_type":"Other"}]},"item_2_publisher_33":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"日本内科学会"}]},"item_2_rights_13":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright (c) 1996 (社)日本内科学会"}]},"item_2_source_id_10":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00195836","subitem_source_identifier_type":"NCID"}]},"item_2_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00215384","subitem_source_identifier_type":"ISSN"}]},"item_2_text_62":{"attribute_name":"出版者別言語","attribute_value_mlt":[{"subitem_text_value":"The Japanese Society of Internal Medicine"}]},"item_2_version_type_16":{"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":"原田, 孝司"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"の村, 信介"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"内藤, 一郎"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-23"}],"displaytype":"detail","filename":"85_1681.pdf","filesize":[{"value":"4.1 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"85_1681.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/16966/files/85_1681.pdf"},"version_id":"193570e3-fce7-4755-a6ce-ed6f9162fcec"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Alport症候群","subitem_subject_scheme":"Other"},{"subitem_subject":"糸球体基底膜","subitem_subject_scheme":"Other"},{"subitem_subject":"IV型コラーゲン","subitem_subject_scheme":"Other"},{"subitem_subject":"α鎖","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Alport症候群","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Alport症候群"}]},"item_type_id":"2","owner":"2","path":["36"],"pubdate":{"attribute_name":"公開日","attribute_value":"2010-02-03"},"publish_date":"2010-02-03","publish_status":"0","recid":"16966","relation_version_is_last":true,"title":["Alport症候群"],"weko_creator_id":"2","weko_shared_id":-1},"updated":"2023-05-17T20:30:40.911731+00:00"}