Fernandes Rui, Freitas Sara, Cunha Pedro, Alves Gloria, Cotter Jorge
Internal Medicine Department Guimarães, Centro Hospitalar do Alto Ave Rua dos Cutileiros Creixomil, 4810, Guimarães, Portugal.
Life and Health Science Research Institute (ICVS) School of Health Science, University of Minho, Braga, Portugal.
J Med Case Rep. 2016 Jul 27;10:205. doi: 10.1186/s13256-016-0984-6.
Goodpasture's syndrome, a rare disease, is an organ-specific autoimmune disease mediated by anti-glomerular basement membrane antibodies. Its pathology is characterized by crescentic glomerulonephritis with linear immunofluorescent staining for immunoglobulin G on the glomerular basement membrane. Although rare, a few cases with absence of circulating anti-glomerular membrane antibodies have been described.
The objective of this clinical case report is to describe and discuss a case of a 27-year-old white man who was hospitalized with a 1-year history of weight loss and a 1-month history of hemoptysis, with aggravation the day before, having developed dyspnea and cough in the previous 24 hours. An analytical study showed normocytic normochromic anemia with a hemoglobin level of 7.2 g/dL and leukocytosis with normal renal function and coagulation times. A blood transfusion was performed without complications. Chest computed tomography revealed a reticulonodular infiltrate of both lungs. Bronchoscopy showed no apparent lesions. Sputum cultures, rapid urine antigens for Legionella pneumophila and Streptococcus pneumoniae, studies for Influenza, virologic markers and serologic studies for autoimmunity were all negative. At the end of the tenth day his general state deteriorated with fatigue, hematuria, and in 3 days he developed aggravation of renal function with recurrent hemoptysis and anemia. Immunosuppression with daily prednisolone 1 g administered intravenously was initiated. An urgent bronchoscopy showed no lesions. A kidney biopsy showed fibrinoid necrosis and cellular crescents. Immunofluorescence revealed a linear immunoglobulin G deposition compatible with Goodpasture's syndrome. Immunosuppressive therapy with daily cyclophosphamide 120 mg orally was added. Subsequently he was transferred to a referral center at which 21 sessions of plasmapheresis and four sessions of hemodialysis were performed with good response; he currently has no need of hemodialysis.
The absence of circulating anti-glomerular basement membrane antibodies in Goodpasture's syndrome adds complexity to the diagnosis creating an unusual setting in a rare disease. In our case a kidney biopsy was essential for diagnosis and clinical approach. Studies have shown that early aggressive therapy leads to an improved prognosis. Physicians should consider tissue diagnoses such as bronchoscopy and kidney biopsy in pulmonary renal syndrome.
古德帕斯彻综合征是一种罕见疾病，是由抗肾小球基底膜抗体介导的器官特异性自身免疫性疾病。其病理特征为新月体性肾小球肾炎，肾小球基底膜上免疫球蛋白G呈线性免疫荧光染色。尽管罕见，但已有少数无循环抗肾小球基底膜抗体的病例报道。
本临床病例报告的目的是描述和讨论一例27岁白人男性患者，该患者因体重减轻1年、咯血1个月入院，前一天病情加重，在过去24小时内出现呼吸困难和咳嗽。分析研究显示正细胞正色素性贫血，血红蛋白水平为7.2 g/dL，白细胞增多，肾功能和凝血时间正常。进行了输血，无并发症。胸部计算机断层扫描显示双肺网状结节浸润。支气管镜检查未发现明显病变。痰培养、嗜肺军团菌和肺炎链球菌快速尿抗原检测、流感研究、病毒学标志物检测及自身免疫血清学研究均为阴性。在第十天结束时他的一般状况恶化，出现疲劳、血尿，3天后肾功能恶化，反复咯血和贫血。开始静脉注射每日1 g泼尼松龙进行免疫抑制治疗。紧急支气管镜检查未发现病变。肾活检显示纤维蛋白样坏死和细胞性新月体。免疫荧光显示与古德帕斯彻综合征相符的线性免疫球蛋白G沉积。加用每日口服120 mg环磷酰胺的免疫抑制治疗。随后他被转至一家转诊中心，在那里进行了21次血浆置换和4次血液透析，反应良好；他目前无需血液透析。
古德帕斯彻综合征中无循环抗肾小球基底膜抗体增加了诊断的复杂性，在这种罕见疾病中创造了一种不寻常的情况。在我们的病例中肾活检对诊断和临床处理至关重要。研究表明早期积极治疗可改善预后。医生在肺肾综合征中应考虑组织诊断，如支气管镜检查和肾活检。
