Abstract：
Multiple cystic lung diseases comprise a wide range of various diseases, some of them of genetic origin. Lymphangioleiomyomatosis (LAM) is a disease occurring almost exclusively in women, sporadically or in association with tuberous sclerosis complex (TSC). Patients with LAM present with lymphatic complications, renal angiomyolipomas and cystic lung disease responsible for spontaneous pneumothoraces and progressive respiratory insufficiency. TSC and LAM have been ascribed to mutations in TSC1 or TSC2 genes. Patients with TSC are variably affected by cutaneous, cognitive and neuropsychiatric manifestations, epilepsy, cerebral and renal tumors, usually of benign nature. Birt-Hogg-Dubé syndrome is caused by mutations in FLCN encoding folliculin. This syndrome includes lung cysts of basal predominance, cutaneous fibrofolliculomas and various renal tumors. The main complications are spontaneous pneumothoraces and renal tumors requiring systematic screening. The mammalian target of rapamycin (mTOR) pathway is involved in the pathophysiology of TSC, sporadic LAM and Birt-Hogg-Dubé syndrome. MTOR inhibitors are used in LAM and in TSC while Birt-Hogg-Dubé syndrome does not progress towards chronic respiratory failure. Future challenges in these often under-recognized diseases include the need to reduce the delay to diagnosis, and to develop potentially curative treatments. In France, physicians can seek help from the network of reference centers for the diagnosis and management of rare pulmonary diseases.
摘要：
多发性囊性肺病包括广泛的各种疾病，其中一些是遗传起源的。淋巴管平滑肌瘤病（LAM）是一种几乎仅发生在女性中的疾病，偶发或与结节性硬化症（TSC）有关。LAM患者出现淋巴并发症，肾血管平滑肌脂肪瘤和囊性肺病引起自发性气胸和进行性呼吸功能不全。TSC和LAM已归因于TSC1或TSC2基因中的突变。TSC患者受皮肤的影响不同，认知和神经精神表现，癫痫,脑和肾肿瘤，通常是良性的。Birt-Hogg-Dubé综合征是由编码卵泡素的FLCN突变引起的。这种综合征包括基础优势的肺囊肿，皮肤纤维囊瘤和各种肾脏肿瘤。主要并发症是自发性气胸和需要系统筛查的肾肿瘤。哺乳动物雷帕霉素靶蛋白(mTOR)通路参与TSC的病理生理,零星的LAM和Birt-Hogg-Dubé综合征。MTOR抑制剂用于LAM和TSC，而Birt-Hogg-Dubé综合征不会发展为慢性呼吸衰竭。这些通常未被认识到的疾病的未来挑战包括需要减少诊断的延迟，并开发潜在的治疗方法。在法国,医生可以从参考中心网络寻求帮助，以诊断和管理罕见的肺部疾病。
