{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T12:31:55Z","timestamp":1758630715787,"version":"3.41.2"},"reference-count":10,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T00:00:00Z","timestamp":1679011200000},"content-version":"vor","delay-in-days":28,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by xanthoma\/xanthogranuloma infiltration in various organs and a broad spectrum of clinical presentations, including bone lesions, central diabetes insipidus and renal failure. BRAF V600E mutation is seen in almost half of the cases of ECD; the BRAF inhibitor vemurafenib is recommended treatment in the United States and the European Union. However, the indication for vemurafenib in Japan is limited to unresectable malignant melanoma with BRAF mutation. Although glucocorticoids, interferon, chemotherapy, and radiation therapy are treatment options, no standard therapy for ECD has yet been established in Japan. We describe here a patient with central diabetes insipidus and retroperitoneal lesions who was successfully treated with prednisolone. Glucocorticoid therapy is therefore a plausible alternative for ECD with BRAF V600E mutation when the BRAF inhibitor vemurafenib cannot be used.<\/jats:p>","DOI":"10.1210\/jcemcr\/luad014","type":"journal-article","created":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T16:55:08Z","timestamp":1679072108000},"source":"Crossref","is-referenced-by-count":2,"title":["Erdheim-Chester Disease With BRAF V600E Mutation and Central Diabetes Insipidus Successfully Treated With Glucocorticoid"],"prefix":"10.1210","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8808-1893","authenticated-orcid":false,"given":"Toshinori","family":"Imaizumi","sequence":"first","affiliation":[{"name":"Department of Diabetes, Endocrinology and Metabolism, Gifu University Graduate School of Medicine , Gifu 501-1194 , Japan"},{"name":"Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine , Gifu 501-1194 , Japan"},{"name":"Department of Diabetes and Endocrinology, Gifu Prefectural General Medical Center , Gifu 500-8717 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2052-1714","authenticated-orcid":false,"given":"Hisashi","family":"Daido","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Gifu Prefectural General Medical Center , Gifu 500-8717 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3236-2463","authenticated-orcid":false,"given":"Takehiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Endocrinology and Metabolism, Gifu University Graduate School of Medicine , Gifu 501-1194 , Japan"},{"name":"Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine , Gifu 501-1194 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5334-7687","authenticated-orcid":false,"given":"Daisuke","family":"Yabe","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Endocrinology and Metabolism, Gifu University Graduate School of Medicine , Gifu 501-1194 , Japan"},{"name":"Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine , Gifu 501-1194 , Japan"},{"name":"Center for One Medicine Innovative Translational Research, Gifu University Institute for Advanced Studies , Gifu 501-1194 , Japan"},{"name":"Preemptive Food Research Center, Gifu University Institute for Advanced Studies , Gifu 501-1194 , Japan"},{"name":"Center for Healthcare Information Technology, Tokai National Higher Education and Research System , Nagoya 464-8601 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2023,3,17]]},"reference":[{"issue":"2","key":"2024010813080954800_luad014-B1","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/BF01942684","article-title":"Uber lipoidgranulomatose","volume":"279","author":"Chester","year":"1930","journal-title":"Virchows Arch Pathol Anat"},{"issue":"22","key":"2024010813080954800_luad014-B2","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1182\/blood.2019003507","article-title":"Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era","volume":"135","author":"Goyal","year":"2020","journal-title":"Blood"},{"issue":"9","key":"2024010813080954800_luad014-B3","doi-asserted-by":"crossref","first-page":"3751","DOI":"10.1007\/s00330-018-5326-1","article-title":"Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation","volume":"28","author":"Nikpanah","year":"2018","journal-title":"Eur Radiol"},{"issue":"11","key":"2024010813080954800_luad014-B4","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.3324\/haematol.2018.190728","article-title":"Prognostic factors of Erdheim-Chester disease: a nationwide survey in Japan","volume":"103","author":"Toya","year":"2018","journal-title":"Haematologica"},{"issue":"3","key":"2024010813080954800_luad014-B5","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1097\/00005792-199605000-00005","article-title":"Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases","volume":"75","author":"Veyssier-Belot","year":"1996","journal-title":"Medicine (Baltimore)"},{"issue":"8","key":"2024010813080954800_luad014-B6","doi-asserted-by":"crossref","first-page":"1596","DOI":"10.1136\/annrheumdis-2013-204924","article-title":"BRAFV600E-mutation is invariably present and associated to oncogene-induced senescence in Erdheim-Chester disease","volume":"74","author":"Cangi","year":"2015","journal-title":"Ann Rheum Dis"},{"issue":"5","key":"2024010813080954800_luad014-B7","doi-asserted-by":"crossref","first-page":"770","DOI":"10.3390\/cells11050770","article-title":"Impact of glucocorticoid use in oncology in the immunotherapy era","volume":"11","author":"Kalfeist","year":"2022","journal-title":"Cells"},{"issue":"4","key":"2024010813080954800_luad014-B8","doi-asserted-by":"crossref","first-page":"208","DOI":"10.5414\/CN110295","article-title":"Unusual ischemic kidney injury presenting as slowly declining graft function and successful use of oral desmopressin in a kidney transplant recipient with subclinical central diabetes insipidus","volume":"95","author":"Kaneko","year":"2021","journal-title":"Clin Nephrol"},{"issue":"6","key":"2024010813080954800_luad014-B9","doi-asserted-by":"crossref","first-page":"1721","DOI":"10.21037\/tp-20-476","article-title":"Asymptomatic obstructive hydronephrosis associated with diabetes insipidus: a case report and review","volume":"10","author":"Sun","year":"2021","journal-title":"Transl Pediatr"},{"issue":"6","key":"2024010813080954800_luad014-B10","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1007\/s12185-011-0965-x","article-title":"Analysis of 43 cases of Langerhans cell histiocytosis (LCH)-induced central diabetes insipidus registered in the JLSG-96 and JLSG-02 studies in Japan","volume":"94","author":"Shioda","year":"2011","journal-title":"Int J Hematol"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/2\/luad014\/51825519\/luad014.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/2\/luad014\/51825519\/luad014.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T13:37:34Z","timestamp":1704721054000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luad014\/7079995"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,17]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2,17]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luad014","relation":{},"ISSN":["2755-1520"],"issn-type":[{"type":"electronic","value":"2755-1520"}],"subject":[],"published-other":{"date-parts":[[2023,3,1]]},"published":{"date-parts":[[2023,2,17]]},"article-number":"luad014"}}