{"created":"2023-05-15T16:29:22.612531+00:00","id":96,"links":{},"metadata":{"_buckets":{"deposit":"2f6dbd93-959f-4e54-b54f-2d346c3f880e"},"_deposit":{"created_by":2,"id":"96","owners":[2],"pid":{"revision_id":0,"type":"depid","value":"96"},"status":"published"},"_oai":{"id":"oai:nagasaki-u.repo.nii.ac.jp:00000096","sets":["10:11"]},"author_link":["492","497","488","493","486","494","490","487","489","495","491","496"],"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-06-06","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"379","bibliographicPageStart":"375","bibliographicVolumeNumber":"9","bibliographic_titles":[{"bibliographic_title":"CEN Case Reports"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Bartter syndrome and Gitelman syndrome (GS) are autosomal recessive disorders usually caused by homozygous or compound heterozygous mutations in causative genes. In some patients, these two syndromes cannot be discriminated based on clinical features or mutation type; thus, a single disease concept, salt-losing tubulopathies (SLTs), has been used instead. Despite the existence of several SLT causative genes, cases of\n digenic heterozygous mutations in two different genes are extremely rare. Here, we report the case of a 36-year-old woman with renal insufficiency and hypokalemia caused by an SLT. To evaluate the SLT phenotype, we performed next-generation sequencing (NGS) with a gene panel including SLC12A3,SLC12A1, \nCLCNKB, and CLCNKA as well as laboratory examinations and diuretic loading tests. The results of the diuretic loading tests were consistent with a GS phenotype, while the NGS results showed that the patient had heterozygous mutations in SLC12A1 and CLCNKB. Both genes have been associated with BS,suggesting that the SLT was caused by digenic heterozygous mutations in two different genes. To date, only a few SLT cases caused by digenic heterozygous mutations in two different genes have been reported. The digenic SLT phenotype in the patient was presumably accelerated by moderate renal insufficiency.","subitem_description_type":"Abstract"}]},"item_2_description_63":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"CEN case reports, 9(4), pp.375-379; 2020","subitem_description_type":"Other"}]},"item_2_publisher_33":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Springer Nature"}]},"item_2_relation_12":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1007/s13730-020-00489-3","subitem_relation_type_select":"DOI"}}]},"item_2_rights_13":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"c 2020 the Japanese Society of Nephrology. This is a post-peer-review, pre-copyedit version of an article published in CEN case reports. The final authenticated version is available online at: http://dx.doi.org/10.1007/s13730-020-00489-3"}]},"item_2_source_id_8":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"21924449","subitem_source_identifier_type":"ISSN"}]},"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_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Umene, Ryusuke"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kitamura, Mineaki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Arai, Hideyuki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Matsumura, Kazuki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ishimaru, Yuka"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Maeda, Kanenori"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Uramatsu, Tadashi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Obata, Yoko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Mori, Takayasu"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sohara, Eisei"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Uchida, Shinichi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nishino, Tomoya"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2021-06-06"}],"displaytype":"detail","filename":"CENCR9_375.pdf","filesize":[{"value":"288.6 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"CENCR9_375.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/96/files/CENCR9_375.pdf"},"version_id":"825b2631-dccf-4949-9e82-7ffbf7e1c678"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Bartter syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"CLCNKB","subitem_subject_scheme":"Other"},{"subitem_subject":"Salt-losing tubulopathies","subitem_subject_scheme":"Other"},{"subitem_subject":"SLC12A1","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"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":"Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency"}]},"item_type_id":"2","owner":"2","path":["11"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-12-16"},"publish_date":"2020-12-16","publish_status":"0","recid":"96","relation_version_is_last":true,"title":["Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency"],"weko_creator_id":"2","weko_shared_id":2},"updated":"2023-05-15T23:00:08.842496+00:00"}