原发性免疫缺陷性疾病在消化系统的表现

Gastrointestinal Manifestations of Primary Immunodeficiency Disorders

原发性免疫缺陷性疾病(PIDDs)包含300余种先天性免疫缺陷性疾病,其中常见变异型免疫缺陷病(CVID)和慢性肉芽肿病(CGD)临床相对常见。CVID是一种细胞免疫与体液免疫混合性免疫缺陷病,CGD是一种遗传性吞噬细胞功能缺陷病,两者临床表现有相似之处,包括对病原微生物易感以及有非感染性炎症性疾病如类炎症性肠病(IBD)表现等,内镜表现和病理表现无特异性,部分患者表现酷似IBD,诊断需根据基因分析确定具体分型。目前PIDDs在治疗上尚无统一标准,以经验性治疗为主。感染患者需予覆盖细菌和真菌的广谱药物,有类IBD表现者需予糖皮质激素或免疫抑制剂治疗。

Primary immunodeficiency disorders (PIDDs) contain more than 300 inborn errors of immunity, among which common variable immunodeficiency (CVID) and chronic granulomatous disease (CGD) are relatively common in clinical practice. CVID is characterized by loss of B cell function and impaired antibody production, while CGD is mainly a congenital disorder with defective neutrophil function. In both diseases, the clinical features include an increased susceptibility to infections and may have symptoms resembling non-infectious inflammatory disorders such as inflammatory bowel disease (IBD). The endoscopic and pathologic findings are non-specific and often mimic IBD, gene analysis is important for differential diagnosis. Treatment is not well defined and is mainly empirical. Infections should be treated with broad-spectrum agents covering both bacterial and fungal pathogens. Corticosteroids or immunosuppressors can be used for PIDDs patients with IBD manifestations.