结节性硬化症相关型和散发型肺淋巴管肌瘤病30例临床回顾研究

目的探讨结节性硬化症相关型(TSC-LAM)和散发型肺淋巴管肌瘤病(S-LAM)的临床、影像、病理特点,提高对该病的诊治水平,减少误诊和漏诊。方法对2011年至2016年广州呼吸疾病研究所收治的30例TSC-LAM和S-LAM患者资料进行回顾分析。结果本研究纳入TSC-LAM组10例和S-LAM组20例,均为成年女性,两组平均年龄分别为38.1岁和39.2岁,TSC-LAM组常伴家族史(40%),S-LAM组均为散发,常见临床表现发生比例两组分别为呼吸困难(60%,70%),自发性气胸(50%,55%),咳嗽(30%,40%),咯血(30%,40%),乳糜胸(20%,25%),其中合并呼吸衰竭需要家庭氧疗(20%,15%)。TSC-LAM组皮肤损害包括面部血管纤维瘤10例,脱色素斑疹8例,甲床纤维瘤3例,鲨革斑3例。两组胸部CT均表现为弥漫性双肺囊性变并多发肺大疱;腹部增强CT显示单侧或双侧的单发或多发肾血管平滑肌脂肪瘤(AML)。TSC-LAM组头颅增强CT或MRI示皮质不典型增生6例,室管膜下结节9例。两组典型肺部组织病理示免疫组化:SMA(+)、HMB45(+)、ER(+)和PR(+)。健康对照组(20例)、TSC-LAM组和S-LAM组血清VEGF-D结果分别为268.1 pg/mlIQR 190.8~364.1;n=20]、2 031.9 pg/mlIQR 1 441.3~3 124.4;n=10]和1 476.9 pg/mlIQR 855.3~1 861.1;n=20]。其中,TSC-LAM组和S-LAM组均显著高于健康对照组(P0.001)。结论成年女性结节性硬化症患者肺部受累主要为肺淋巴管肌瘤病,典型临床表现为呼吸困难和气胸,胸部CT、肺活检和血清VEGF-D有助诊断。

Tuberous sclerosis complex associated lymphangioleiomyomatosis and sporadic lymphangioleiomyomatosis: a retrospective study of 30 cases

Objective To improve the recognization of clinical, radiological and pathological characteristics of lymphangioleiomyomatosis ( LAM ) . Plus, it can decrease missed diagnosis and diagnostic errors. Methods It was reviewed that clinical data of 30 patients with tuberous sclerosis complex associated lymphangioleiomyomatosis ( TSC-LAM) or sporadic lymphangioleiomyomatosis ( S-LAM) in Guangzhou Institute of Respiratory Disease from 2011 to 2016. Results All of 10 TSC-LAM individuals and 20 S-LAM individuals were enrolled to this research. All participants were female and average age of both groups were 38. 1 yrs and 39.2 yrs respectively. Almost 40％ TSC-LAM cases had family history and all S-LAM cases were sporadic. Clinical manifestations of both groups included respectively:dyspnea( 60％, 70％) , spontaneous pneumothorax ( 50％, 55％) , cough ( 30％, 40％c ) , hemoptysis ( 30％, 40％) , Chylothorax ( 20％, 25％) , needed supplemental oxygen( 20％, 15％) . Dermatologic features of TSC-LAM patients included: facial angiofibroma ( 10 cases ) , hypomelanotic macules ( 8 cases ) , ungual bromas ( 3 cases ) and shagreen patch ( 3 cases ) . Thoracic CT scans of all patients indicated diffuse cystic lung and bullae of lung. Enhanced CT scans of the abdomen in both groups identified renal angiomyolipomas. Cerebral CT and MRI scans included 6 cortical dysplasias cases and 9 subependymal nodules cases. Typical characteristics of immunohistochemisty of lung biopsy included SMA(+)、HMB45(+)、ER(+) and PR(+) . Mean value of serum VEGF-D concentrations of healthy control and TSC-LAM and S-LAM were 268.1 pg/ml IQR 190.8-364.1;n=20] , 2031.9 pg/ml IQR 1441.3-3124.4;n=10] , 1476.9 pg/ml IQR 855.3-1861.1;n=20] , respectively. Besides, serum VEGF-D of TSC-LAM and S-LAM were significantly higher than healthy volunteers(P<0.001). Conclusions The main pulmonary involvement of tuberous sclerosis complex is lymphangioleiomyomatosis. Dyspnea and pneumothorax are main clinical features. Thoracic CT and lung biopsy and serum VEGF-D is contribute to diagnosis with lymphangioleiomyomatosis.