{"created":"2025-03-03T05:33:16.726932+00:00","id":2000354,"links":{},"metadata":{"_buckets":{"deposit":"8732f5c5-5857-462a-9654-a4b4f1b8c0ef"},"_deposit":{"created_by":4,"id":"2000354","owner":"4","owners":[4],"pid":{"revision_id":0,"type":"depid","value":"2000354"},"status":"published"},"_oai":{"id":"oai:hama-med.repo.nii.ac.jp:02000354","sets":["1:75:1740964477960"]},"author_link":[],"control_number":"2000354","item_3_biblio_info_5":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2025-03-15","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"24","bibliographicPageStart":"19","bibliographicVolumeNumber":"5","bibliographic_titles":[{"bibliographic_title":"浜松医科大学小児科学雑誌","bibliographic_titleLang":"ja"},{"bibliographic_title":"Hamamatsu Journal of Pediatrics","bibliographic_titleLang":"en"}]}]},"item_3_description_9":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"オルニチントランスカルバミラーゼ欠損症（ornithine transcarbamylase deficiency：OTCD）は，X染色体連鎖性遺伝形式により生じる尿素サイクル異常症であり，オルニチントランスカルバミラーゼの先天的欠乏によりアンモニアが体内に蓄積する疾患である．本症では高アンモニア血症により重篤な神経障害きたすため，一部の症例では肝移植が必要となる．症例は母方家系にOTCD家族歴を有する男児．出生直後よりOTCDの精査が進められた．日齢0に高アンモニア血症を呈し，生化学的検査，遺伝子検査によりOTCDと診断された．両親の既往歴等により生体肝移植が困難であったため，新生児期に脳死肝移植待機リストに登録された．生後3か月時の高アンモニア血症を契機に脳死肝移植待機リスト順位が上昇し，生後4か月時に脳死肝移植に至った．本症例は，生体肝移植が困難なOTCD患者において，出生後の早期診断と迅速な脳死肝移植待機リスト登録により，肝移植までの期間を短縮できたことを示す重要な症例である．","subitem_description_language":"ja","subitem_description_type":"Abstract"},{"subitem_description":"Ornithine transcarbamylase deficiency (OTCD), a urea cycle disorder, is an X-linked metabolic disease characterized by a congenital deficiency of ornithine transcarbamylase, an enzyme predominantly expressed in the liver. This deficiency leads to the accumulation of toxic ammonia in the body due to impaired conversion of ammonia to urea, resulting in hyperammonemia, which can cause neurological damage and life-threatening conditions. We report a case of a male infant with a maternal family history of OTCD. Early investigations were initiated immediately after birth, as the patient was at high risk of the disease. On day 0, the patient developed hyperammonemia and was diagnosed with OTCD based on biochemical and genetic testing. Due to parental medical conditions, living-donor liver transplantation was not feasible, and the patient was registered on the deceased-donor liver transplantation waiting list. At 3 months of age, a second episode of hyperammonemia occurred, which prioritized his position on the waiting list. At 4 months of age, a brain-dead donor liver transplantation was successfully performed. This case represents an important example of how early postnatal diagnosis and prompt registration on the liver transplantation waiting list can shorten the time to transplantation in OTCD patients for whom living-donor liver transplantation is not feasible.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_3_publisher_6":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"浜松医科大学小児科学雑誌編集部","subitem_publisher_language":"ja"}]},"item_3_source_id_20":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"2436-2433","subitem_source_identifier_type":"EISSN"}]},"item_3_version_type_32":{"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_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"0000000403781551","affiliationNameIdentifierScheme":"ISNI","affiliationNameIdentifierURI":"https://isni.org/isni/0000000403781551"},{"affiliationNameIdentifier":"05x23rx38","affiliationNameIdentifierScheme":"ROR","affiliationNameIdentifierURI":"https://ror.org/05x23rx38"}],"affiliationNames":[{"affiliationName":"静岡県立こども病院","affiliationNameLang":"ja"},{"affiliationName":"シズオカケンリツコドモビョウイン","affiliationNameLang":"ja-Kana"},{"affiliationName":"Shizuoka Children's Hospital","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"山田, 高史","creatorNameLang":"ja","creatorNameType":"Personal"},{"creatorName":"ヤマダ, タカシ","creatorNameLang":"ja-Kana","creatorNameType":"Personal"},{"creatorName":"YAMADA, Takashi","creatorNameLang":"en","creatorNameType":"Personal"}]},{"creatorNames":[{"creatorName":"佐野, 伸一朗","creatorNameLang":"ja","creatorNameType":"Personal"},{"creatorName":"サノ, シンイチロウ","creatorNameLang":"ja-Kana","creatorNameType":"Personal"},{"creatorName":"SANO, Shinichiro","creatorNameLang":"en","creatorNameType":"Personal"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2025-03-15"}],"displaytype":"detail","filename":"hjop_5_1_19.pdf","filesize":[{"value":"684 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://hama-med.repo.nii.ac.jp/record/2000354/files/hjop_5_1_19.pdf"},"version_id":"655931c2-78ba-454a-a56c-659325e84544"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"尿素サイクル異常症","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"OTC欠損症","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"高アンモニア血症","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"肝移植","subitem_subject_language":"ja","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":"出生後の早期診断と迅速な肝移植待機リスト登録により生後4か月で脳死肝移植に至ったオルニチントランスカルバミラーゼ欠損の一例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"出生後の早期診断と迅速な肝移植待機リスト登録により生後4か月で脳死肝移植に至ったオルニチントランスカルバミラーゼ欠損の一例","subitem_title_language":"ja"},{"subitem_title":"Early Diagnosis and Prompt Waiting List Registration Leading to Deceased-Donor Liver Transplantation in a 4-Month-Old Patient with Ornithine Transcarbamylase Deficiency","subitem_title_language":"en"}]},"item_type_id":"3","owner":"4","path":["1740964477960"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2025-03-15"},"publish_date":"2025-03-15","publish_status":"0","recid":"2000354","relation_version_is_last":true,"title":["出生後の早期診断と迅速な肝移植待機リスト登録により生後4か月で脳死肝移植に至ったオルニチントランスカルバミラーゼ欠損の一例"],"weko_creator_id":"4","weko_shared_id":-1},"updated":"2025-03-14T04:05:46.819661+00:00"}