肺淋巴管平滑肌瘤病1例

A case of pulmonary lymphangioleiomyomatosis

肺淋巴管平滑肌瘤病(PLAM)是一种与结节性硬化症基因突变相关的肿瘤性肺病,主要影响育龄妇女,可引起弥漫性囊性组织重塑和进行性呼吸衰竭,LAM细胞的来源和细胞特征及疾病的发病机制尚不完全明确。胸部高分辨率CT(HRCT)为本病最具诊断价值的影像学检查,其表现为双肺弥漫性分布的薄壁囊腔影,血清血管内皮生长因子-D(VEGF-D)水平可见异常增高,最终的确诊往往需要依赖病理检查结果。目前对于本病的治疗方法尚有限,西罗莫司已成为首选药,行肺移植患者未来仍有复发可能。因PLAM临床表现缺乏特异性且罕见,常易被误诊或漏诊。本文报道1例肺淋巴管平滑肌瘤病患者的临床资料,并复习相关文献,以提高对该病的认识。

Pulmonary lymphangioleiomyomatosis(PLAM)is a neoplastic lung disease associated with tuberous sclerosis complex gene mutation,which mainly affects women of childbearing age and can cause diffuse tissue remodeling progressive respiratory failure.The origin and cellular characteristics of LAM cells,as well as the pathogenesis of the disease,are not fully clarified.High-resolution computed tomography(HRCT)of the chest is an imaging examination of the diagnostic value of this disease,which is characterized by diffusely distributed thin-walled cysts and abnormally increased serum vascular endothelial growth factor-D levels.The final diagnosis often depends on the results of the pathological examination.At present,the treatment of this disease is still limited.Sirolimus has become the drug of choice,and patients undergoing lung transplantation still have the possibility of recurrence in the future.Since the clinical presentation of PLAM lacks specificity and is rare,it is often easily misdiagnosed or missed.In this paper,we report the clinical data of a patient with pulmonary lymphangioleiomyomatosis and review the relevant literature to improve the understanding of the disease.