多种囊性肺病包括多种疾病，其中一些是遗传性的。淋巴管平滑肌瘤病 (LAM) 是一种几乎仅发生于女性的疾病，偶发或与结节性硬化症 (TSC) 相关。 LAM 患者出现淋巴并发症、肾血管平滑肌脂肪瘤和导致自发性气胸和进行性呼吸功能不全的囊性肺疾病。 TSC 和 LAM 被归因于 TSC1 或 TSC2 基因的突变。 TSC 患者会受到皮肤、认知和神经精神表现、癫痫、脑肿瘤和肾肿瘤（通常是良性肿瘤）的不同影响。 Birt-Hogg-Dubé 综合征是由编码卵泡素的 FLCN 突变引起的。该综合征包括基底为主的肺囊肿、皮肤纤维毛囊瘤和各种肾肿瘤。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、散发性 LAM 和 Birt-Hogg-Dubé 综合征的病理生理学。 MTOR 抑制剂用于 LAM 和 TSC，而 Birt-Hogg-Dubé 综合征不会进展为慢性呼吸衰竭。这些经常被忽视的疾病未来面临的挑战包括需要减少诊断延迟并开发潜在的治疗方法。在法国，医生可以向参考中心网络寻求帮助，以诊断和管理罕见肺部疾病。版权所有 © 2023 SPLF。由 Elsevier Masson SAS 出版。版权所有。

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.Copyright © 2023 SPLF. Published by Elsevier Masson SAS. All rights reserved.