Division of Pulmonology, Department of Pediatrics, Thomas Jefferson University, 1600 Rockland Road, Wilmington, DE 19803, United States.
Division of Allergy and Immunology, Department of Pediatrics, Thomas Jefferson University, 1600 Rockland Road, Wilmington, DE 19803, United States.
Autoimmun Rev. 2014 Apr-May;13(4-5):383-7. doi: 10.1016/j.autrev.2014.01.035. Epub 2014 Jan 11.
Sarcoidosis is a multiorgan system disease that often presents insidiously. The diagnosis is often made fortuitously upon routine chest radiography or that done for other reasons. Blacks are more commonly affected than whites and age of onset is typically adolescents to young adults. Lung involvement is common and symptoms may include cough, dyspnea and chest pain. Extrapulmonary symptoms may include the skin, joint and eye findings. Bilateral hilar adenopathy is the classic finding on chest radiograph. Anemia or other cell line deficiencies, elevated liver enzymes, hypercalciuria, and EKG abnormalities may also be present. Angiotensin converting enzyme levels may be elevated but are not diagnostic. Histopathological confirmation of noncaseating granulomas is essential for diagnosis. It is generally performed through a biopsy of the most peripheral site possible, although transbronchial biopsy is commonly required. Finally, other possible etiologies must be evaluated and differentiated with a particular emphasis on tuberculosis due to the multiple overlapping symptoms and findings. Newer techniques such as proteomics and transcriptional gene signatures may contribute to the understanding of the pathophysiology of sarcoidosis, and may even serve as diagnostic tools in the future.
结节病是一种多系统疾病,常隐匿起病。诊断通常是偶然在常规胸部 X 线摄影或因其他原因进行的检查中发现。黑人比白人更常见,发病年龄通常为青少年至年轻成人。肺部受累常见,症状可能包括咳嗽、呼吸困难和胸痛。肺外症状可能包括皮肤、关节和眼部表现。双侧肺门淋巴结肿大是胸部 X 线摄影的典型表现。贫血或其他细胞系缺陷、肝酶升高、高钙尿症和心电图异常也可能存在。血管紧张素转换酶水平可能升高,但无诊断意义。非干酪样肉芽肿的组织病理学确认为诊断所必需。通常通过尽可能在最外周部位进行活检来进行,尽管通常需要经支气管活检。最后,必须评估和鉴别其他可能的病因,特别是由于症状和表现重叠,需要特别注意结核病。新的技术,如蛋白质组学和转录基因特征,可能有助于了解结节病的病理生理学,并可能在未来甚至作为诊断工具。