21例肺淋巴管平滑肌瘤病临床诊治与随访回顾性分析*

A retrospective analysis in 21 cases of pulmonary lymphangioleiomyomatosis*

摘要:

目的 分析肺淋巴管平滑肌瘤病（PLAM）的诊治情况，提高该病的诊治效率。方法 收集2006年 1月—2017年12月中南大学湘雅二医院确诊并长期随访的21例PLAM患者的临床和随访资料并进行分析和总结。结果 21例患者均为女性，平均年龄（35.9±7.63）岁，平均确诊年龄（39.0±8.23）岁。其中，6例患者首发症状为活动后气促，5例患者首发或病程中出现自发性气胸；3例患者因体检时发现影像学异常而就诊；6例首次就诊科室为外科的患者中，3例因发现肾脏肿块，行肾脏肿块切除或单侧肾切除，术后病理证实为血管平滑肌脂肪瘤。影像学表现为双肺弥漫性的大小不一的薄壁圆形囊性病变，18例患者中，17例患者血清血管内皮生长因子-D（VEGF-D）浓度均>800?pg/ml，治疗后的血清VEGF-D浓度仍>800?pg/ml。14例患者就诊时行肺功能检查，肺功能均显示阻塞性通气功能下降；13例确诊时行弥散功能检查，其中12例患者出现弥散功能下降；21例患者中15例服用雷帕霉素治疗，服药后患者症状、第1秒用力呼气容积/用力肺活量（FEV1/FVC或FEV1%）及生活质量均明显改善，但就诊时肺功能重度损害的患者肺功能改善不明显。结论 腹膜后囊性包块、肾脏血管平滑肌脂肪瘤、腹痛或自发性气胸的育龄期女性患者应注意排查PLAM，存在肺功能损害、气胸和乳糜胸的患者建议服用雷帕霉素，雷帕霉素对改善患者的呼吸道症状和提高生活质量疗效明显。

Abstract:

Objective To analyze and improve the efficiency of the diagnosis and treatment of pulmonary lymphangioleiomyomatosis (PLAM). Methods The clinical data of 21 PLAM patients under non-regular long-term follow-up were collected, analyzed and summarized from January 2006 to December 2017 in the Second Xiangya Hospital of Central South University. Results A total of 21 patients were all female, average age for onset of disease was (35.9?±?7.63) and the average age for definite diagnosis was (39.0?±?8.23). The commonest symptom was shortness of breath after activity (6 in 21 patients), and 3 patients merely showed imaging abnormalities without symptoms. 5 patients suffered spontaneous pneumothorax during disease course. 6 of 21 patients were received by the department of surgery at their first visit. Among them, 3 of 6 patients had undergone unilateral nephrectomy or renal mass resection because of kidney mass and their pathological examinations were all angiomyolipoma (AML). The imaging findings in PLAM patients were characterized as diffuse, thin and round cystic lesions with varying sizes in both lungs. Levels of serum vascular endothelial growth factor-D (VEGF-D) were measured in 18 patients with PLAM before or after treatment, and the levels in 17 patients were more than 800?pg/ml. Serum VEGF-D concentrations after treatment were still more than 800?pg/ml. Pulmonary function tests were performed in 14 patients, obstructive ventilation dysfunction was showed in all these patients at the first visit and pulmonary diffusion function decreased in 12 patients. 15 of 21 patients had taken rapamycin, and their respiratory symptoms, the value of forced expiratory volume in the first second (FEV1) in predicted volume and quality of life were significantly improved. However, the pulmonary function in patients with severe impairment were not significantly improved. Conclusions Patients under childbearing age who presented with retroperitoneal cysts, renal AML, abdominal pain or spontaneous pneumothorax should be monitored the tests for PLAM. Rapamycin can improve respiratory symptoms, FEV1/ FVC and quality of life in PLAM patients. Patients with impaired lung function, pneumothorax and chylothorax should be advised to begin the treatment of rapamycin.