{"created":"2023-06-19T08:55:17.153304+00:00","id":2644,"links":{},"metadata":{"_buckets":{"deposit":"09ecae73-401b-4c86-a009-cf095ea8d9f1"},"_deposit":{"created_by":15,"id":"2644","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"2644"},"status":"published"},"_oai":{"id":"oai:kpu-m.repo.nii.ac.jp:00002644","sets":["65:82"]},"author_link":["2905","2990","2766","2747"],"item_24_biblio_info_9":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2021-03-31","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"62","bibliographicPageStart":"56","bibliographicVolumeNumber":"7","bibliographic_titles":[{"bibliographic_title":"京都府立医科大学附属北部医療センター誌","bibliographic_titleLang":"ja"},{"bibliographic_title":"Journal of North Medical Center Kyoto Prefectural University of Medicine","bibliographic_titleLang":"en"}]}]},"item_24_description_4":{"attribute_name":"著者所属(日)","attribute_value_mlt":[{"subitem_description":"京都府立医科大学附属北部医療センター　小児科","subitem_description_type":"Other"}]},"item_24_description_5":{"attribute_name":"著者所属(英)","attribute_value_mlt":[{"subitem_description":"Department of Pediatrics, North Medical Center, Kyoto Prefectural University of Medicine","subitem_description_type":"Other"}]},"item_24_description_7":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Gitelman症候群(GS、MIM#263800)は腎遠位尿細管のサイアザイド感受性Na-Cl共輸送体(NCCT、責任遺伝子SLC12A3)の機能異常に由来する常染色体劣性遺伝病である。今回我々は頭痛・全身倦怠感・嘔気嘔吐・テタニーを契機に診断されたGSの小児同胞例を経験した。9歳の女児(姉)が夏季運動部活動の練習中に頭痛、全身倦怠感、嘔吐を訴え当科を紹介となった。右前腕にテタニーを認め、血液検査では低カリウム(K)血症(血清K、3.1mmol/L)を伴う代謝性アルカローシスを認めた。低マグネシウム(Mg)血症はなかった。高レニン血症および血清アルドステロンの高値を認めた。次世代シーケンサーを用いた遺伝子解析でSLC12A3 exon 22にc.2573T>A(p.Leu858His)ヘテロ接合性バリアントを認めた。塩化カリウムの経口補充で頭痛・倦怠感・テタニーの症状はなくなった。4歳の弟には慢性頭痛、全身倦怠感、嘔吐の主訴があり精査を実施した。低K血症、代謝性アルカローシス、高レニン性高アルドステロン血症の存在が明らかとなった。低Mg血症はなかった。姉と同様に遺伝子解析でSLC12A3 p.Leu858Hisバリアントを認め、GSの診断となった。低K血症は全身倦怠感の原因やテタニー・慢性頭痛・嘔気嘔吐の増悪因子として重要であり、GSを含む腎尿細管異常症を視野に積極的に精査する価値は高い。自験例では低Mg血症の存在はなく、GSとしては非典型例だったが、次世代シーケンサーを用いた網羅的な遺伝学的解析が確定診断に有用であった。(著者抄録)","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_24_publisher_10":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"京都府立医科大学附属北部医療センター","subitem_publisher_language":"ja"}]},"item_24_source_id_11":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2188-5400","subitem_source_identifier_type":"ISSN"}]},"item_24_version_type_22":{"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":"中島, 久和","creatorNameLang":"ja"},{"creatorName":"ナカジマ, ヒサカズ","creatorNameLang":"ja-Kana"},{"creatorName":"Nakajima, Hisakazu","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"都間, 佑介","creatorNameLang":"ja"},{"creatorName":"ツマ, ユウスケ","creatorNameLang":"ja-Kana"},{"creatorName":"Tsuma, Yusuke","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"森元, 英周","creatorNameLang":"ja"},{"creatorName":"モリモト, ヒデチカ","creatorNameLang":"ja-Kana"},{"creatorName":"Morimoto, Hidechika","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"幸道, 和樹","creatorNameLang":"ja"},{"creatorName":"コウドウ, カズキ","creatorNameLang":"ja-Kana"},{"creatorName":"Kodo, Kazuki","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2022-02-09"}],"displaytype":"detail","filename":"hokubu7_09.pdf","filesize":[{"value":"722.5 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"論文","url":"https://kpu-m.repo.nii.ac.jp/record/2644/files/hokubu7_09.pdf"},"version_id":"b6cd5d95-0766-49b9-8b21-1eaa8fbc7d50"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Gitelman症候群","subitem_subject_scheme":"Other"},{"subitem_subject":"低カリウム血症","subitem_subject_scheme":"Other"},{"subitem_subject":"低マグネシウム血症","subitem_subject_scheme":"Other"},{"subitem_subject":"尿中マグネシウム排泄","subitem_subject_scheme":"Other"},{"subitem_subject":"SLC12A3遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"Gitelman syndrome","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"hypokalemia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"hypomagnesemia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"fractional excretion of magnesium","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"SLC12A3","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":"journal article"}]},"item_title":"低マグネシウム血症のないGitelman症候群の小児同胞例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"低マグネシウム血症のないGitelman症候群の小児同胞例","subitem_title_language":"ja"},{"subitem_title":"Two siblings of pediatric Gitelman syndrome without hypomagnesemia","subitem_title_language":"en"}]},"item_type_id":"24","owner":"15","path":["82"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2022-02-09"},"publish_date":"2022-02-09","publish_status":"0","recid":"2644","relation_version_is_last":true,"title":["低マグネシウム血症のないGitelman症候群の小児同胞例"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2023-08-02T01:40:25.669742+00:00"}