结节性硬化症合并肺淋巴管肌瘤病2例诊治体会.PDFVIP

中南大学学报（医学版） 2016, 41(7) J Cent South Univ (Med Sci) 771 CASE ANALYSIS · · ·临床病例讨论 · DOI:10.11817/j.issn.1672-7347.2016.07.018 /xbwk/fileup/PDF/201607771.pdf 结节性硬化症合并肺淋巴管肌瘤病 2 例诊治体会 纵单单，刘彩虹，石志辉，周莉，彭雅婷，欧阳若芸 (中南大学湘雅二医院呼吸内科，长沙410011) [摘要] 目的：为提高对结节性硬化症合并肺淋巴管肌瘤病的认识和诊治水平，回顾性分析2例结节性硬化症合并 肺淋巴管肌瘤病患者的临床资料。2例患者均有肺部特征性囊性改变、肾血管平滑肌脂肪瘤及不同程度的皮肤损害。 1例患者有中枢神经系统受累；1例接受雷帕霉素治疗后肺部及肾病变显著改善。结节性硬化症患者临床表现多样， 合并肺淋巴管肌瘤病时有特征性影像学改变，对肺部淋巴管疾病患者应做结节性硬化症的筛查。雷帕霉素对该病治 疗有显著疗效。 [关键词] 结节性硬化症；肺淋巴管肌瘤病；雷帕霉素；诊断；治疗 Diagnosis and treatment for 2 cases of tuberous sclerosis complex with pulmonary lymphangioleiomyomatosis ZONG Dandan, LIU Caihong, SHI Zhihui, ZHOU Li, PENG Yating, OUYANG Ruoyun (Department of Respiratory Medicine, Second Xiangya Hospital, Central South University, Changsha 410011, China) ABSTRACT To improve the diagnosis and treatment for tuberous sclerosis complex (TSC) with pulmonary lymphangioleiomyomatosis, a retrospective analysis was performed based on the clinical data of 2 patients with such disease. Both of them have typical thin-walled cystic lesion throughout the lung field, renal angioleiomyolipoma, and various degrees of skin lesions. Central nervous system is involved in one patient. Lesions in the lung and kidney in one patient were improved significantly after 5 months of rapamycin treatment. The clinical phenotypes were diverse in TSC patients. The CT imaging showed typical characteristics when the lung was invaded by the tumor. When a patient