Abstract：
Erdheim Chester Disease (ECD) is a rare histiocytic disorder marked by infiltration of organs with CD68+ histiocytes. ECD stems from mutations of BRAF and MAP2K1 in hematopoietic stem and progenitor cells (HSPCs), which further differentiate into monocytes and histiocytes. Histopathology reveals lipid-containing histiocytes, which test positive for CD68 and CD133 in immunohistochemistry. Signs and symptoms vary and depend on the organ/s of manifestation. Definitive radiological results associated with ECD include hairy kidney, coated aorta, and cardiac pseudotumor. Treatment options primarily include anti-cytokine therapy and inhibitors of BRAF and MEK signaling.
摘要：
Erdheim切斯特病（ECD）是一种罕见的组织细胞疾病，其特征是CD68组织细胞浸润器官。ECD源于造血干细胞和祖细胞（HSPCs）中BRAF和MAP2K1的突变，进一步分化为单核细胞和组织细胞。组织病理学显示含有脂质的组织细胞，在免疫组织化学中CD68和CD133检测呈阳性。体征和症状各不相同，取决于表现的器官。与ECD相关的明确放射学结果包括多毛肾，主动脉涂层,和心脏假瘤.治疗选择主要包括抗细胞因子疗法以及BRAF和MEK信号传导的抑制剂。
