{"created":"2023-05-15T11:21:47.870685+00:00","id":459,"links":{},"metadata":{"_buckets":{"deposit":"77910517-c49b-413b-9582-7b7ee9040ca5"},"_deposit":{"created_by":1,"id":"459","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"459"},"status":"published"},"_oai":{"id":"oai:showa.repo.nii.ac.jp:00000459","sets":["1:6:44:45"]},"author_link":["2119","2121","2120","2117","2118"],"item_10002_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2013-02"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"47","bibliographicPageStart":"43","bibliographicVolumeNumber":"73","bibliographic_titles":[{"bibliographic_title":"昭和学士会雑誌"}]}]},"item_10002_description_6":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"症例は45歳男性、15歳より繰り返す痛風発作と両手関節痛を認め、両足関節痛と可動域制限を主訴に当院を受診となった。患者は既往歴に精神疾患と他院での急性腎不全による入院治療歴があった。これらの経緯より、われわれはプリン核酸代謝異常を有する先天的疾患に罹患している可能性を推測した。Hypoxanthine-guanine phosphoribosyltransferase(HPRT)遺伝子(HPRT1)を解析したところ、HPRT1の第2エクソンにGからTへの単塩基置換が認められ、23番目のコドンでアミノ酸がシステインからフェニルアラニンへと置き換わるミスセンス変異(C23F)が判明した。患者赤血球中のHPRT酵素活性は約30%に低下し、adenine phosphoribosyltransferase(APRT)活性の上昇が認められた。以上の結果より、患者はHPRT部分欠損症と診断された。アロプリノール投与により、疼痛と腫脹は軽減されたが、高度な関節破壊は残存した。このような高度関節破壊を伴うHPRT部分欠損症の報告は過去にない。(著者抄録)","subitem_description_type":"Abstract"}]},"item_10002_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"昭和大学学士会"}]},"item_10002_relation_14":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"10.14930/jshowaunivsoc.73.43"}}]},"item_10002_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2187-719X"}]},"item_10002_version_type_20":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"王, 興栄"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"並木, 脩"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"豊島, 洋一"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"稲垣, 克記"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"山田, 裕一"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-07-26"}],"displaytype":"detail","filename":"73_43.pdf","filesize":[{"value":"415.8 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"73_43.pdf","url":"https://showa.repo.nii.ac.jp/record/459/files/73_43.pdf"},"version_id":"47ad43b4-9726-4c18-9b55-fdb44930454f"}]},"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":"departmental bulletin paper"}]},"item_title":"Hypoxanthine-guanine phosphoribosyltransferase部分欠損症の1例　高度関節破壊を認めた症例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Hypoxanthine-guanine phosphoribosyltransferase部分欠損症の1例　高度関節破壊を認めた症例"}]},"item_type_id":"10002","owner":"1","path":["45"],"pubdate":{"attribute_name":"公開日","attribute_value":"2016-07-08"},"publish_date":"2016-07-08","publish_status":"0","recid":"459","relation_version_is_last":true,"title":["Hypoxanthine-guanine phosphoribosyltransferase部分欠損症の1例　高度関節破壊を認めた症例"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-05-15T13:01:37.520714+00:00"}