Lymphangioleiomyomatosis(LAM) is a rare disease that occurs mainly in women of childbearing age.There are cystic changes in the lungs,which often leads to dyspnea,recurrent pneumothorax,and respiratory failure at the end stage.The current treatment is limited and the prognosis is very poor.In recent years,scholars have been gradually deepenedly understanding the disease,and believe that the occurrence of LAM is related to the over activation of mammalian target of rapamycin(mTOR)signaling pathway caused by tuberous sclerosis complex(TSC) gene mutation,and the inhibition of mTOR signaling pathway is an effective treatment for this disease.This paper introduces the epidemiological characteristics,pathological features and pathogenesis,clinical manifestations and diagnostic points of LAM and systematically describes the current treatment and potential therapeutic agents,in order to improve the clinician′s understanding and provide the basis for the diagnosis and treatment.%淋巴管平滑肌瘤病(LAM)是一种主要发生在育龄期女性的罕见疾病.肺部呈囊性改变,常导致呼吸困难、反复气胸,终末期出现呼吸衰竭.目前治疗方法有限,远期预后极差.近年来学者们对该病的认识已逐步深入,认为LAM的发生与结节性硬化症(TSC)基因突变导致雷帕霉素靶蛋白(mTOR)信号通路过度激活有关,抑制mTOR信号通路是治疗该病的有效方法.本文简述了该病的流行病学特点、病理表现和发病机制、临床表现及诊断要点,系统描述了该病目前的治疗方法以及潜在的治疗药物,以期提高临床医师对该病的认识,为LAM的诊断治疗提供依据.
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