【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。更多还原

【Abstract】 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.更多还原