Gurskytė Viktorija, Zeleckienė Ingrida, Maskoliūnaitė Vygantė, Mickys Ugnius, Šileikienė Virginija
Faculty of Medicine, Vilnius University, M. K. Čiurlionio Str. 21/27, LT-03101, Vilnius, Lithuania.
Centre of Radiology and Nuclear Medicine, Vilnius University Hospital Santaros Klinikos, Santariškių Str. 2, LT-08661, Vilnius, Lithuania.
Respir Med Case Rep. 2020 Feb 1;29:101014. doi: 10.1016/j.rmcr.2020.101014. eCollection 2020.
Diffuse pulmonary lymphangiomatosis (DPL) is a rare disease characterized by uncontrolled proliferation of anastomosing lymphatic channels in the lungs, pleura and mediastinum. Several palliative treatment options have been suggested for this condition, such as surgical interventions, radiotherapy and systemic medications. However, the existing treatment modalities yield inconsistent results, and their use is often limited by toxic side effects. The aim of this case report is to demonstrate the diagnostic challenges of a rare disease and improvement in the condition of a DPL patient treated with sirolimus. A 27-year-old man presented to the pulmonologist with exertional dyspnea, chronic cough and intermittent hemoptysis. Upon medical investigation, a chest computed tomography (CT) scan revealed soft tissue masses infiltrating the mediastinum and bilateral interlobular septal thickening. A surgical biopsy was performed, and pathological tissue analysis showed findings consistent with the diagnosis of DPL. Treatment with sirolimus was initiated, maintaining trough concentrations between 10 and 15 ng/ml. At 21 months of treatment, the patient reported reduced symptoms of cough and dyspnea. A CT scan showed decreased interstitial thickening and reduced infiltrations in the mediastinum. Moreover, pulmonary function tests revealed a significant increase in FEV1 and FVC. The authors believe this is the first article reporting pulmonary function improvement in an adult DPL patient treated with sirolimus. Therefore, sirolimus therapy should be considered for DPL patients as it may be effective in improving their condition and preventing disease progression.
弥漫性肺淋巴管瘤病（DPL）是一种罕见疾病，其特征为肺、胸膜和纵隔内吻合的淋巴管通道不受控制地增殖。针对这种疾病已提出了几种姑息治疗方案，如手术干预、放疗和全身用药。然而，现有的治疗方式效果不一，其应用常受毒性副作用的限制。本病例报告的目的是展示一种罕见疾病的诊断挑战以及用西罗莫司治疗的DPL患者病情的改善情况。一名27岁男性因劳力性呼吸困难、慢性咳嗽和间歇性咯血就诊于肺科医生。经医学检查，胸部计算机断层扫描（CT）显示软组织肿块浸润纵隔及双侧小叶间隔增厚。进行了手术活检，病理组织分析结果与DPL诊断一致。开始用西罗莫司治疗，维持谷浓度在10至15 ng/ml之间。治疗21个月时，患者报告咳嗽和呼吸困难症状减轻。CT扫描显示间质增厚减轻，纵隔浸润减少。此外，肺功能测试显示第一秒用力呼气容积（FEV1）和用力肺活量（FVC）显著增加。作者认为这是第一篇报道用西罗莫司治疗的成年DPL患者肺功能改善的文章。因此，对于DPL患者应考虑西罗莫司治疗，因为它可能有效改善患者病情并预防疾病进展。
