以双下肢疼痛为主要表现的Erdheim-Chester病一例  

Erdhein-Chester disease with bilateral lower limb pain as the main manifestation: a case report

作　　者：王志芳 常春康[3] 章振林[1] WANG Zhi-fang;CHANG Chun-kang;ZHANG Zhen-lin(Shanghai Bone Disease Clinical Research Center,Department of Osteoporosis and Bone Disease,Shanghai Jiao Tong University Affiliated Sixth People,s Hospital,Shanghai 200233,China;Department of Endocrinology,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;Department of Hematology,Shanghai Jiao Tong University Affiliated Sixth People's Hospital,Shanghai 200233,China)

机构地区：[1]上海交通大学附属第六人民医院骨质疏松与骨病专科,上海市骨疾病临床研究中心,上海200233 [2]郑州大学第一附属医院内分泌科,郑州450052 [3]上海交通大学附属第六人民医院血液科,上海200233

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2021年第2期169-174,共6页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家重点研发计划(2018YFA0800801);上海市申康医院发展中心新兴前沿技术联合攻关项目(SHDC2018120)。

摘　　要：Erdheim-Chester病是一种罕见的非朗格汉斯组织细胞增生症,可以累及多系统,以骨骼受累最常见。本文报道一例39岁男性,因双下肢疼痛就诊,并发尿崩症、高泌乳素血症[泌乳素(prolactin,PRL)412.9 mU/L]、雄激素减少[睾酮(testosterone,T)7.76 nmol/L]、亚临床甲减[促甲状腺激素(thyroid stimulating hormone,TSH)5.17 mU/L]及肺部受累,结合临床表现、影像学及实验室检查,初步诊断为Erdheim-Chester病。右胫骨活检病理检查发现组织细胞,且存在BRAF V600E突变而确诊。本文在进行文献复习的基础上对该病展开讨论,旨在提高临床医师的认识。Erdhein-chester disease is a rare non-Langerhans histocytes that can involve multiple systems,with bone involvement as the most common.We reports a 39-year-old man who visited the hospital due to pain in both lower limbs,complicated with diabetes insipidus,hyperprolactinemia(prolactin,PRL 412.9 mU/L),androgen reduction(testosterone,T 7.76 nmol/L),subclinical hypothyroidism(thyroid stimulating hormone,TSH 5.17 mU/L),and pulmonary involvement.Combined with clinical manifestations,imaging,and laboratory tests,Erdhein-Chester disease was preliminarily diagnosed.The diagnosis was confirmed by the presence of BRAF V600 E mutation and tissue cells on biopsy of the right tibia.We discusse the disease based on literature review,aiming to improve the understanding of clinicians.

关 键 词：ERDHEIM-CHESTER病 非朗格汉斯组织细胞增生症 骨痛 BRAF基因突变 

分 类 号：R681[医药卫生—骨科学]