Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803-3607, USA.
Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803-3607, USA.
Best Pract Res Clin Rheumatol. 2014 Apr;28(2):191-212. doi: 10.1016/j.berh.2014.03.006.
Pediatric granulomatous diseases constitute a heterogenous group of conditions in terms of clinical phenotypes, pathogenic mechanisms, and outcomes. The common link is the presence of multinucleated giant cells in the inflammatory infiltrate. The clinical scenario in which a tissue biopsy shows granulomatous inflammation is not an uncommon one for practicing adult and pediatric rheumatologists. Our role as rheumatologists is to develop a diagnostic plan based on a rational differential diagnostic exercise tailored to the individual patient and based mainly on a detailed clinical assessment. This chapter presents a comprehensive differential diagnosis associated with a classification developed by the authors. We describe with some detail extrapulmonary sarcoidosis, Blau syndrome, and immunodeficiency associated granulomatous inflammation, which in our view are the paradigmatic primary forms of granulomatous diseases in childhood. The other entities are presented only as differential diagnoses listing their most relevant clinical features. This chapter shows that almost all granulomatous diseases seen in adults can be found in children and that there are some entities that are essentially pediatric at onset, namely Blau syndrome and most forms of immunodeficiency associated granulomatous diseases.
儿科肉芽肿性疾病在临床表现型、发病机制和预后方面具有异质性。其共同点是炎症浸润中有多核巨细胞。对于成人和儿科风湿病医生来说，组织活检显示肉芽肿性炎症的临床情况并不罕见。作为风湿病医生，我们的作用是根据针对个体患者的合理鉴别诊断制定诊断计划，主要基于详细的临床评估。本章提出了一个全面的鉴别诊断，并根据作者制定的分类进行了描述。我们详细描述了肺外结节病、Blau 综合征和免疫缺陷相关的肉芽肿性炎症，我们认为这些是儿童肉芽肿性疾病的典型原发性疾病。其他疾病仅作为鉴别诊断列出其最相关的临床特征。本章表明，几乎所有在成人中见到的肉芽肿性疾病在儿童中都可以找到，而且有些疾病从一开始就主要见于儿童，即 Blau 综合征和大多数免疫缺陷相关的肉芽肿性疾病。
