Lymphangioleiomyomatiosis
Lymphangioleiomyomatiosis
复制标题
DOI：
10.1183/09031936.06.00113303
复制
发表时间：
2006-05-01
影响因子：
24.3
通讯作者：
Johnson, SR
中科院分区：
文献类型：
--
作者：
Johnson, SR
摘要淋巴管平滑肌瘤病是一种罕见的肺部疾病，可偶发或合并结节性硬化症。LAM几乎只影响女性，通常在绝经前发病。该病的特征是进行性肺囊性变、复发性气胸、乳糜性胸膜聚集，在大多数情况下，会出现进行性呼吸衰竭。腹部表现包括淋巴结病，囊性淋巴肿块（淋巴管平滑肌瘤），乳糜腹水和血管平滑肌脂肪瘤（良性肿瘤）。LAM的10年生存率约为70%，尽管这是高度可变的，因为长期存活者已被描述。诊断是通过结合临床特征和计算机断层扫描，或在怀疑的情况下，肺活检。在疾病进展迅速的患者中，使用激素治疗（主要是孕酮），尽管没有确切的证据支持其使用。否则，治疗的目的是并发症，包括气胸，乳糜收集和肺外表现。目前，严重LAM的唯一治疗方法是肺移植。淋巴管平滑肌瘤病细胞生物学的最新进展表明，这些患者与结节性硬化症相关的基因中存在体细胞突变，雷帕霉素可能会纠正由此产生的细胞异常。雷帕霉素治疗淋巴管平滑肌瘤病的试验目前正在进行中，并为该疾病的循证治疗提供了希望。
Lymphangioleiomyomatosis (LAM) is a rare disease of the lungs and lymphatics, which can occur sporadically or in association with tuberous sclerosis. LAM almost exclusively affects females, generally developing before the menopause.The disease is characterised by progressive pulmonary cystic change, recurrent pneumothorax, chylous pleural collections and, in most cases, progressive respiratory failure. Abdominal manifestations include lymphadenopathy, cystic lymphatic masses (lymphangioleiomyomas), chylous ascites and angiomyolipoma (a benign tumour). Survival in LAM is -70% at 10 yrs, although this is highly variable since long-term survivors have been described.Diagnosis is made by a combination of clinical features and computed tomography scanning or, in cases of doubt, lung biopsy. In patients with rapidly progressive disease, hormone treatment (predominantly progesterone) has been used, although no firm evidence supports its use. Otherwise, treatment is aimed at complications including pneumothorax, chylous collections and extrapulmonary manifestations. The only treatment for severe LAM is currently lung transplantation.Recent developments in the cell biology of lymphangioleiomyomatosis have shown that these patients have somatic mutations in the genes linked to tuberous sclerosis and that rapamycin may correct the resulting cellular abnormality. Trials of rapamycin in lymphangioleiomyomatosis are currently underway and offer hope of evidence-based treatment for the disease.