呼吸系统淀粉样变性11例临床分析

Retrospective analysis of 11 cases of respiratory amyloidosis

目的探讨呼吸系统淀粉样变性的临床表现、诊断和治疗方法。方法回顾性分析2002年1月至2012年1月在北京大学第一医院住院的11例呼吸系统淀粉样变性患者的临床资料，并结合文献进行复习。结果10年间病理确诊为淀粉样变性的住院患者共250例，占同期住院患者总数的0．06％（250／389402）；病理确诊为呼吸系统淀粉样变性11例，占淀粉样变性总例数的4．4％（11／250），其中淀粉样物相关蛋白A型（AA型）4例，免疫球蛋白轻链型（AL型）7例。临床主要表现为声嘶、咳嗽、呼吸困难等。4例AA型患者为单侧喉部局限性病变，手术切除后无复发。7例AL型患者中，2例累及双侧喉部，手术切除后多次复发；4例弥漫累及气管、支气管，影像学表现为气道黏膜弥漫性增厚、管腔狭窄、突向腔内的结节及气道壁的钙化，内窥镜表现为气道黏膜肥厚、充血、水肿、隆起及管腔狭窄；3例累及肺部，2例为双肺弥漫性间质样病变，另1例为肺内孤立性肿块，伴肺外受累。7例AL型患者中，3例接受化疗和（或）放疗，3例行外科手术，2例行自体造血干细胞移植，2例行支气管镜下介入治疗；随访3年，4例存活，2例死亡，1例失访。结论呼吸系统淀粉样变性临床罕见，可分为AA型和AL型。AA型常为局限性病变，手术切除效果好；AL型常为弥漫性病变，易复发、预后差，治疗措施包括外科手术、介入治疗、放化疗及自体造血干细胞移植等。

Objective To investigate the clinical manifestation, diagnosis and treatment of respiratory amyloidosis. Methods Data of 11 patients with respiratory amyloidosis diagnosed by biopsy in Peking University First Hospital from January 2002 to January 2012 were analyzed, and the related literatures were reviewed. Results In the last decade, 250 of 389 402 hospitalized patients were pathologically diagnosed as having amyloidosis, and 11 cases were pathologically confirmed to be respiratory amyloidosis. In these 11 patients, 4 cases were with serum amloid A （AA） amyloidosis and 7 with light-chain （AL） amyloidosis. The main clinical manifestations included hoarseness, cough and dyspnea. In 4 cases with AA type unilateral larynx was involved and there was no recurrence after surgical resection. Of 7 cases with AL type, 2 cases had involvement of bilateral larynxes and both relapsed after surgery. Diffuse involvement of trachea and bronchi was found in 4 cases, and the chest CT scans showed diffuse thickening and local calcification of the airway wall, bronchial stenosis and nodules protruding into the lumen. Bronchoscopy showed airway mucosal hypertrophy, hyperemia, edema and bronchial stenosis. Lung involvement was found in 3 cases, 2 of which presented with diffuse pulmonary interstitial infiltrates, and another case presented with solitary pulmonary mass and extrapulmonary lesions. Of the 7 cases with AL type, 3 cases were treated by chemotherapy and/or radiotherapy, 3 received surgery, 2 underwent autologous hematopoietic stem cell transplantation, and 2 underwent bronehoscopic interventional therapy. Within 3 years of follow-up, 4 patients were alive, 2 dead and 1 lost to follow up. Conclusions Respiratory amyloidosis, which can be divided into AA and AL types, is clinically rare. Patients with AA type usually present with local lesions, which can be cured by surgery, while patients with AL type often present with diffuse lesions and require integrated therapies including surgery, interventional treatment, chemotherapy, radiotherapy, and autologous hematopoietic stem cell transplantation.