Nunes Hilario, Bouvry Diane, Soler Paul, Valeyre Dominique
Service de Pneumologie, Hôpital Avicenne, Assistance Publique Hôpitaux de Paris et Faculté de Médecine, Université Paris-Nord, 93009 Bobigny, France.
Orphanet J Rare Dis. 2007 Nov 19;2:46. doi: 10.1186/1750-1172-2-46.
Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. It is an ubiquitous disease with incidence (varying according to age, sex, race and geographic origin) estimated at around 16.5/100,000 in men and 19/100,000 in women. The lung and the lymphatic system are predominantly affected but virtually every organ may be involved. Other severe manifestations result from cardiac, neurological, ocular, kidney or laryngeal localizations. In most cases, sarcoidosis is revealed by persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and erythema nodosum. Abnormal metabolism of vitamin D3 within granulomatous lesions and hypercalcemia are possible. Chest radiography is abnormal in about 90% of cases and shows lymphadenopathy and/or pulmonary infiltrates (without or with fibrosis), defining sarcoidosis stages from I to IV. The etiology remains unknown but the prevailing hypothesis is that various unidentified, likely poorly degradable antigens of either infectious or environmental origin could trigger an exaggerated immune reaction in genetically susceptible hosts. Diagnosis relies on compatible clinical and radiographic manifestations, evidence of non-caseating granulomas obtained by biopsy through tracheobronchial endoscopy or at other sites, and exclusion of all other granulomatous diseases. The evolution and severity of sarcoidosis are highly variable. Mortality is estimated at between 0.5-5%. In most benign cases (spontaneous resolution within 24-36 months), no treatment is required but a regular follow-up until recovery is necessary. In more serious cases, a medical treatment has to be prescribed either initially or at some point during follow-up according to clinical manifestations and their evolution. Systemic corticosteroids are the mainstay of treatment of sarcoidosis. The minimal duration of treatment is 12 months. Some patients experience repeated relapses and may require long-term low-dose corticosteroid therapy during years. Other treatments (immunosuppressive drugs and aminoquinolins) may be useful in case of unsatisfactory response to corticosteroids, poor tolerance and as sparing agents when high doses of corticosteroids are needed for a long time. In some strictly selected cases refractory to standard therapy, specific antiTNF-alpha agents may offer precious improvement. Some patients benefit from topical corticosteroids.
结节病是一种病因不明的多系统疾病，其特征是受累器官形成免疫肉芽肿。它是一种普遍存在的疾病，发病率（因年龄、性别、种族和地理来源而异）估计男性约为16.5/10万，女性约为19/10万。肺和淋巴系统是主要受累部位，但实际上每个器官都可能受累。心脏、神经、眼部、肾脏或喉部受累可导致其他严重表现。在大多数情况下，结节病表现为持续性干咳、眼部或皮肤表现、外周淋巴结肿大、疲劳、体重减轻、发热或盗汗以及结节性红斑。肉芽肿病变内维生素D3代谢异常和高钙血症是可能的。约90%的病例胸部X线检查异常，表现为淋巴结病和/或肺部浸润（有无纤维化），据此将结节病分为I至IV期。病因仍然不明，但普遍的假说是，各种未确定的、可能难以降解的感染性或环境源性抗原可能在基因易感宿主中引发过度的免疫反应。诊断依赖于符合的临床和影像学表现、通过气管支气管内镜活检或其他部位活检获得的非干酪样肉芽肿证据，以及排除所有其他肉芽肿性疾病。结节病的病程和严重程度差异很大。死亡率估计在0.5%-5%之间。在大多数良性病例（24-36个月内自发缓解）中，无需治疗，但需要定期随访直至康复。在更严重的病例中，根据临床表现及其演变，在初始阶段或随访期间的某个时间必须进行药物治疗。全身用皮质类固醇是结节病治疗的主要药物。治疗的最短持续时间为12个月。一些患者会反复复发，可能需要数年的长期低剂量皮质类固醇治疗。在对皮质类固醇反应不佳、耐受性差以及需要长期高剂量皮质类固醇时作为节约药物的情况下，其他治疗方法（免疫抑制药物和氨基喹啉）可能有用。在一些对标准治疗难治的严格选择的病例中，特异性抗TNF-α药物可能会带来宝贵的改善。一些患者受益于局部用皮质类固醇。
