{"created":"2025-03-03T04:41:19.000084+00:00","id":2000352,"links":{},"metadata":{"_buckets":{"deposit":"0e046de3-dfaf-4ee3-8957-e0fd76c18af9"},"_deposit":{"created_by":4,"id":"2000352","owner":"4","owners":[4],"pid":{"revision_id":0,"type":"depid","value":"2000352"},"status":"published"},"_oai":{"id":"oai:hama-med.repo.nii.ac.jp:02000352","sets":["1:75:1740964477960"]},"author_link":[],"control_number":"2000352","item_3_biblio_info_5":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2025-03-15","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"11","bibliographicPageStart":"3","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":"糖原病は，グリコーゲン合成・分解，解糖経路の酵素欠損や輸送体異常により引き起こされる疾患群である．糖原病I，VI，IX型などに出現する低血糖や肝腫大や，少量頻回食やコーンスターチ療法などの食事療法はよく知られているが，糖原病には15疾患以上が存在するため，疾患により，また同一疾患であっても亜型や重症度により，症状（肝腫大，肝硬変，低血糖，筋力低下，心筋症，腎障害など）や治療法は様々である．糖原病VI，IX型は予後良好な症例が多いが，多くの糖原病では長期合併症が出現し，外科手術が必要な例も少なくない．本稿では，糖原病の多発性肝腺腫など長期合併症に対する多くの診療科による管理，糖原病Ib型の好中球機能障害に対するナトリウム/グルコース共輸送体2（SGLT2）阻害薬の新たな推奨，Pompe病の酵素補充療法後の新しい表現型，糖原病III型に対する高蛋白食やケトン食療法の有効性など，糖原病における進歩とアンメットニーズについて概説する．","subitem_description_language":"ja","subitem_description_type":"Abstract"},{"subitem_description":"Glycogen storage diseases (GSDs) are a group of disorders caused by enzyme deficiencies or transporter abnormalities in glycogen synthesis, glycogenolysis, and glycolytic pathways. Although the hypoglycemia and hepatomegaly that occur in GSD type I, VI, and IX and the dietary treatments such as frequent small meals and cornstarch therapy for these diseases are well known, there are more than 15 GSDs, so the symptoms (hepatomegaly, cirrhosis, hypoglycemia, muscle weakness, cardiomyopathy, renal failure, etc.) and treatments vary depending on the disease or subtype and severity of the disease even within the same disease. GSD type VI and IX have a good prognosis in many cases, but many other types of GSDs have long-term complications and require surgical intervention in many cases. This article reviews the unmet needs and challenges in GSDs including the management of long-term complications such as multiple hepatic adenomas in GSDs, new recommendations for sodium/glucose cotransporter 2 (SGLT2) inhibitors for neutrophil dysfunction in GSD type Ib, new phenotypes of Pompe disease after enzyme replacement therapy, and the efficacy of high protein diet and ketone diet in GSD type III.","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":"0000000089376696","affiliationNameIdentifierScheme":"ISNI","affiliationNameIdentifierURI":"https://isni.org/isni/0000000089376696"},{"affiliationNameIdentifier":"00ndx3g44","affiliationNameIdentifierScheme":"ROR","affiliationNameIdentifierURI":"https://ror.org/00ndx3g44"}],"affiliationNames":[{"affiliationName":"浜松医科大学","affiliationNameLang":"ja"},{"affiliationName":"ハママツイカダイガク","affiliationNameLang":"ja-Kana"},{"affiliationName":"Hamamatsu University School of Medicine","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"福田, 冬季子","creatorNameLang":"ja","creatorNameType":"Personal"},{"creatorName":"フクダ, トキコ","creatorNameLang":"ja-Kana","creatorNameType":"Personal"},{"creatorName":"FUKUDA, Tokiko","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":"2025-03-03"}],"displaytype":"detail","filename":"hjop_5_1_3.pdf","filesize":[{"value":"891 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://hama-med.repo.nii.ac.jp/record/2000352/files/hjop_5_1_3.pdf"},"version_id":"c0bdb899-f2ca-4321-b31d-48c11d3e12cb"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"糖原病","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"多発性肝腺腫","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"SGLT2阻害薬","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"Pompe病","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"酵素補充療法","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":"糖原病のアンメットニーズと診断・治療法の進歩","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"糖原病のアンメットニーズと診断・治療法の進歩","subitem_title_language":"ja"},{"subitem_title":"Glycogen Storage Diseases : Unmet Need and Advances in Diagnosis and Treatment","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":"2000352","relation_version_is_last":true,"title":["糖原病のアンメットニーズと診断・治療法の進歩"],"weko_creator_id":"4","weko_shared_id":-1},"updated":"2025-03-14T04:03:34.790095+00:00"}