Imaizumi Toshinori, Daido Hisashi, Kato Takehiro, Yabe Daisuke
Department of Diabetes, Endocrinology and Metabolism, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan.
Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan.
JCEM Case Rep. 2023 Mar 17;1(2):luad014. doi: 10.1210/jcemcr/luad014. eCollection 2023 Mar.
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.
厄德里希-切斯特病（ECD）是一种罕见的非朗格汉斯细胞组织细胞增多症，其特征为各器官出现黄瘤/黄色肉芽肿浸润以及广泛的临床表现，包括骨病变、中枢性尿崩症和肾衰竭。几乎半数的ECD病例存在BRAF V600E突变；在美国和欧盟，BRAF抑制剂维莫非尼被推荐用于治疗。然而，在日本，维莫非尼的适应证仅限于不可切除的BRAF突变恶性黑色素瘤。尽管糖皮质激素、干扰素、化疗和放射治疗都是治疗选择，但日本尚未确立ECD的标准治疗方案。我们在此描述一名患有中枢性尿崩症和腹膜后病变的患者，其接受泼尼松龙治疗后获得成功。因此，当无法使用BRAF抑制剂维莫非尼时，糖皮质激素治疗对于BRAF V600E突变的ECD来说是一种可行的替代方案。
