Pacheco-Rodriguez Gustavo, Kristof Arnold S, Stevens Linda A, Zhang Yi, Crooks Denise, Moss Joel
Pulmonary-Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1590, USA.
Chest. 2002 Mar;121(3 Suppl):56S-60S. doi: 10.1378/chest.121.3_suppl.56s.
Lymphangioleiomyomatosis (LAM) is a disease of unknown etiology that is characterized by the proliferation of abnormal smooth muscle cells (LAM cells) in the lung, which leads to cystic parenchymal destruction and progressive respiratory failure. Recent evidence suggests that the proliferative and invasive nature of LAM cells may be due, in part, to somatic mutations in the TSC2 gene, which has been implicated in the pathogenesis of tuberous sclerosis complex. Here, we describe the clinical and molecular characteristics of LAM, as well as the efforts now under way to understand the genetic and biochemical factors that lead to progressive pulmonary destruction and, ultimately, to lung transplantation or death.
淋巴管平滑肌瘤病（LAM）是一种病因不明的疾病，其特征是肺部异常平滑肌细胞（LAM细胞）增殖，导致实质性囊性破坏和进行性呼吸衰竭。最近的证据表明，LAM细胞的增殖和侵袭性可能部分归因于TSC2基因的体细胞突变，该基因与结节性硬化症的发病机制有关。在此，我们描述了LAM的临床和分子特征，以及目前为了解导致进行性肺破坏并最终导致肺移植或死亡的遗传和生化因素所做的努力。
