Dept of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
Dept of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Eur Respir Rev. 2021 Apr 29;30(160). doi: 10.1183/16000617.0152-2020. Print 2021 Jun 30.
Granulomatous inflammation of the lung can be a manifestation of different conditions and can be caused by endogenous inflammation or external triggers. A multitude of different genetic mutations can either predispose patients to infections with granuloma-forming pathogens or cause autoinflammatory disorders, both leading to the phenotype of pulmonary granulomatosis. Based on a detailed patient history, physical examination and a diagnostic approach including laboratory workup, pulmonary function tests (PFTs), computed tomography (CT) scans, bronchoscopy with bronchoalveolar lavage (BAL), lung biopsies and specialised microbiological and immunological diagnostics, a correct diagnosis of an underlying cause of pulmonary granulomatosis of genetic origin can be made and appropriate therapy can be initiated. Depending on the underlying disorder, treatment approaches can include antimicrobial therapy, immunosuppression and even haematopoietic stem cell transplantation (HSCT). Patients with immunodeficiencies and autoinflammatory conditions are at the highest risk of developing pulmonary granulomatosis of genetic origin. Here we provide a review on these disorders and discuss pathogenesis, clinical presentation, diagnostic approach and treatment.
肺部肉芽肿性炎症可能是多种不同疾病的表现，可由内源性炎症或外部因素触发。许多不同的基因突变可使患者易患形成肉芽肿的病原体感染，或导致自身炎症性疾病，两者均可导致肺部肉芽肿病的表型。通过详细的病史、体格检查以及包括实验室检查、肺功能检查（PFT）、计算机断层扫描（CT）、支气管镜检查伴支气管肺泡灌洗（BAL）、肺活检和专门的微生物学和免疫学诊断在内的诊断方法，可以对遗传性肺部肉芽肿病的潜在病因做出正确诊断，并开始进行适当的治疗。根据潜在疾病，治疗方法可能包括抗菌治疗、免疫抑制甚至造血干细胞移植（HSCT）。免疫缺陷和自身炎症性疾病患者发生遗传性肺部肉芽肿病的风险最高。本文将对这些疾病进行综述，讨论其发病机制、临床表现、诊断方法和治疗。
