Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
J Pediatr Gastroenterol Nutr. 2010 Dec;51(6):690-7. doi: 10.1097/MPG.0b013e3181dc0d73.
Overlap in the clinical presentation of pediatric granulomatous inflammatory bowel disease may be substantial, depending on the mode of presentation. Chronic granulomatous disease (CGD) may present with granulomatous colitis, perianal abscesses, hepatic abscesses or granulomas, failure to thrive, and obstruction of the gastrointestinal tract (including esophageal strictures and dysmotility, delayed gastric emptying, and small bowel obstruction). Anemia, thrombocytosis, elevated C-reactive protein and erythrocyte sedimentation rate, and hypoalbuminemia are nonspecific and may occur in any of the granulomatous inflammatory bowel diseases. In histology, macrophages with cytoplasmic inclusions will be rather specific for CGD. Sarcoidosis may present with abdominal pain or discomfort, diarrhea, weight loss, growth failure, delayed puberty, erythema nodosum, arthritis, uveitis, and hepatic granulomata. Only in 55% of the patients will angiotensin-converting enzyme be elevated. The noncaseating epithelioid granulomata will be unspecific. Bronchoalveolar lymphocytosis and abnormalities in pulmonary function are reported in sarcoidosis and in Crohn disease (CD) and CGD. Importantly, patients with CD may present with granulomatous lung disease, fibrosing alveolitis, and drug-induced pneumonitis. Sarcoidosis and concomitant gastrointestinal CD have been reported in patients, as well as coexistence of CD and sarcoidosis in siblings. Common susceptibility loci have been identified in CD and sarcoidosis. CD and CGD share defects in the defense mechanisms against different microbes. In the present review, common features and essential differences are discussed in clinical presentation and diagnostics--including histology--in CGD, sarcoidosis, and CD, together with 2 other granulomatous inflammatory bowel diseases, namely abdominal tuberculosis and Hermansky-Pudlak syndrome. Instructions for specific diagnosis and respective treatments are provided.
小儿肉芽肿性炎症性肠病的临床表现可能存在重叠，具体取决于其表现方式。慢性肉芽肿病（CGD）可能表现为肉芽肿性结肠炎、肛周脓肿、肝脓肿或肉芽肿、生长发育迟缓以及胃肠道梗阻（包括食管狭窄和运动障碍、胃排空延迟以及小肠梗阻）。贫血、血小板增多症、C 反应蛋白和红细胞沉降率升高以及低白蛋白血症是非特异性的，可能发生在任何一种肉芽肿性炎症性肠病中。在组织学上，细胞质包涵体的巨噬细胞将是 CGD 相当特异的表现。结节病可能表现为腹痛或不适、腹泻、体重减轻、生长发育迟缓、青春期延迟、结节性红斑、关节炎、葡萄膜炎和肝肉芽肿。只有 55%的患者血管紧张素转换酶会升高。非干酪样上皮样肉芽肿是没有特异性的。结节病和克罗恩病（CD）以及 CGD 患者都有肺泡灌洗液淋巴细胞增多和肺功能异常的报道。重要的是，CD 患者可能会出现肉芽肿性肺病、纤维性肺泡炎和药物性肺炎。有报道称，结节病和同时伴有胃肠道 CD 的患者，以及 CD 和结节病在兄弟姐妹中的共存。CD 和结节病都存在共同的易感基因座。CD 和 CGD 共享针对不同微生物的防御机制缺陷。在本综述中，讨论了 CGD、结节病和 CD 以及另外两种肉芽肿性炎症性肠病（即腹部结核和 Hermansky-Pudlak 综合征）在临床表现和诊断（包括组织学）方面的共同特征和重要差异，并提供了具体诊断和相应治疗的指导。
