109例肺泡蛋白沉积症临床影像及病理特征分析

目的肺泡蛋白沉积症为肺部少见疾病,通过本组病例的学习,提高大家对肺泡蛋白沉积症的认识,减少误诊和漏诊。方法收集2011年01月至2019年03月在南京大学医学院附属鼓楼医院呼吸与危重症医学科经病理学明确诊断为肺泡蛋白沉积症的109例患者临床资料,分析其临床特点、胸部HRCT及病理学表现。结果本组患者平均年龄48±11岁(20~73岁),其中男68例,女41例。临床表现:以活动后气喘(70例)和咳嗽伴或不伴咳痰(64例)最多见,胸闷27例,胸痛7例,发热6例,咯血1例。另外体检发现7例。实验室检查:血CEA升高8例,NSE升高49例,CYFRA21-1升高67例;合并有自身抗体异常14例;血甘油三脂增高25例;血气分析示低氧血症患者共54例。HRCT主要表现:典型肺泡蛋白沉积症表现(铺路石症和地图样分布)共102例,实变影6例,细网状阴影6例,纵隔淋巴结肿大2例,结节影2例,胸腔积液1例,胸膜增厚1例。所有患者均进行了病理学检查,肺泡灌洗液PAS染色阳性,和或肺活检组织示肺泡腔内无定形嗜伊红物沉积且PAS染色阳性。其中经支气管镜肺活检(TBLB+BAL)85例,CT引导下经皮肺穿刺3例,外科胸腔镜2例,支气管镜冷冻肺活检(TBLC)2例;另外17例经肺泡灌洗检查明确诊断。结论肺泡蛋白沉积症患者的临床表现多样,缺乏特异性,绝大多数患者HRCT表现典型,确诊仍需病理。

Clinical,radiologic and pathological features of 109 cases of pulmonary alveolar proteinosis

Objective To improve the understanding of pulmonary alveolar proteinosis(PAP)and to reduce the mis-diagnosis and missed diagnosis of PAP,due to PAP is a rare disease.Methods A retrospective analysis were conducted on 109 patients with histologically diagnosed as pulmonary alveolar proteinosis in the department of pulmonary and critical care medicine of Drum Tower Hospital from January 2011 to March 2019,and their clinical and imaging features were reviewed.Results 68 males and 41 females aged from 20 to 73 years old were included in the study,and the mean age was 48±11 years old.Their clinical manifestations included shortness of breath(seventy cases)and cough with or without phlegm(64 cases).There were 27 cases with chest tightness,7 cases with chest pain,6 cases with fever and 1 case with hemoptysis.There were 7 cases without any manifestations.The levels of several serum markers were elevated:CEA(8 cases),CYFRA21-1(67 cases),NSE(49 cases)and TG(25 cases).Blood gas analysis showed 54 cases with hypoxemia.Most patients(102 cases)showed typical imaging presentation of crazy-paving pattern and geographic distribution,6 cases with consolidation,6 cases with fine reticular shadow,2 cases with mediastinal lymph node enlargement,2 cases with nodular shadow,1 case with pleural effusion,and 1 case with pleural thickening.Pathologic examination was performed in all patients,with alveolar lavage fluid PAS staining positive,and/or lung biopsy showing amorphous and homogeneous eosinophilic deposits in alveolar space with PAS staining positive,too.Conclusion The clinical manifestations of PAP are diverse and unspecific,so the diagnosis is still a great challenge and made on compatible clinical presentation and typical radiological manifestations supported by pathologic findings.