CHARACTERIZATION OF THE PATHOGENESIS OF LYMPHANGIOLEIOMYOMATOSIS (LAM)

淋巴管平滑肌瘤病（LAM）是一种罕见的疾病， 在育龄妇女中。临床表现包括 自发性气胸，缓慢进行性呼吸困难，乳糜胸， 咯血和乳糜腹水。主要的病理发现是 不成熟的、紊乱的平滑肌细胞增殖 (LAM细胞）和轴向淋巴结转移。LAM细胞与 识别黑素细胞谱系特异性的单克隆抗体HMB 45 抗原。本文报告35例患者的综合评价 LAM（年龄42.3 ± 8.6岁）。大多数患者有劳力性呼吸困难 (83气胸（69%）。最常见的肺部异常 功能检查显示DLco降低（83%），低氧血症（57%）， 阻塞（51%）。通过计算机断层扫描，许多薄壁囊肿 在所有患者的双肺中发现。大多数患者（97%） 通气和/或灌注肺扫描异常。一个不寻常 74%的患者在通气扫描上观察到“斑点”模式， 患者常见的肺外表现为肾血管平滑肌脂肪瘤（60%） 腹膜后淋巴结肿大（77%）。支气管肺泡灌洗 在16名患者中进行，发现是安全的。LAM细胞百分比 与HMB 45反应的肺活检标本中的变异（17-67%）， 10个病人。尽管激素控制，肺功能的大多数 患者继续下降。更有效的治疗需要 更好地了解LAM的发病机制在分子和 细胞水平。

Lymphangioleiomyomatosis (LAM) is a rare disease that occurs primarily in women of reproductive age. Clinical manifestations include spontaneous pneumothorax, slowly progressive dyspnea, chylothorax, hemoptysis, and chylous ascites. The cardinal pathologic finding is a proliferation of immature-appearing, disorganized smooth muscle cells (LAM cells) in the lung and axial lymphatics. LAM cells react with monoclonal antibody HMB45 which recognizes melanocyte lineage-specific antigen(s). We report herein the comprehensive evaluation of 35 patients with LAM (age 42.3 +/- 8.6 yr). Most patients had exertional dyspnea (83%) and pneumothorax (69%). Most common abnormalities on pulmonary function tests were decreased DLco (83%), hypoxemia (57%), and airway obstruction (51%). By computed tomography, numerous thin-walled cysts throughout both lungs were found in all patients. Most patients (97%) had abnormal ventilation and/or perfusion lung scans. An unusual "speckling" pattern was observed on ventilation scans of 74% of patients. Common extrapulmonary features were renal angiomyolipoma (60%) and retroperitoneal adenopathy (77%). Bronchoalveolar lavage was performed in 16 patients and found to be safe. Percentage of LAM cells reactive with HMB45 was variable (17-67%) in lung biopsy specimens from 10 patients. Despite hormonal manipulation, the lung function of most patients continued to decline. More effective therapy will require a better understanding of the pathogenesis of LAM at the molecular and cellular level.