Eckert J W, Abramson S L, Starke J, Brandt M L
Department of Surgery, Baylor College of Medicine, Houston, Texas 77030-2399.
Am J Surg. 1995 Mar;169(3):320-3. doi: 10.1016/S0002-9610(99)80167-6.
Chronic granulomatous disease (CGD) of childhood is a rare congenital abnormality of the phagocyte NADPH oxidase system. Affected neutrophils and macrophages have an ineffective respiratory burst and cannot destroy certain phagocytized bacteria and fungi. CGD patients usually present with recurrent pyogenic and fungal infections. Catalase-positive bacteria are frequently involved, since they metabolize the hydrogen peroxide they produce, making it unavailable for augmentation of microbicidal activity in CGD neutrophils. Afflicted patients also have a tendency to form granulomas, which can lead to obstruction of the gastrointestinal and genitourinary tracts.
Charts of 10 patients with CGD were reviewed for age at diagnosis, surgical procedures, complications of these procedures, and medical treatment.
Eight of the 10 children were male. The average age at first presentation was 18 months (range 2 days to 9.8 years). Each child developed a mean of 9.9 infections and an average of 1.4 infections per year. All required surgical procedures, with an average of 2.9 procedures each. Five children had operative procedures for infections that preceded the diagnosis of CGD. The procedures performed most frequently were incision and drainage of soft-tissue abcesses (7) or perirectal abscess (3), thoracentesis (3), and bronchoscopy (3). Three children had poor wound healing following surgery. Two developed partial gastric outlet obstruction which resolved with antibiotic therapy. One developed granulomatous cystitis with obstruction which responded to antibiotics.
Since patients with undiagnosed CGD may present with surgical problems, surgeons need to be familiar with this condition. The diagnosis should be suspected in children who have recurrent or unusual infections or unexplained problems with wound healing.
儿童慢性肉芽肿病（CGD）是一种罕见的吞噬细胞烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶系统先天性异常疾病。受影响的中性粒细胞和巨噬细胞呼吸爆发功能无效，无法破坏某些吞噬的细菌和真菌。CGD患者通常表现为反复的化脓性和真菌感染。过氧化氢酶阳性细菌经常涉及其中，因为它们会代谢自身产生的过氧化氢，使CGD中性粒细胞无法利用过氧化氢增强杀菌活性。患病患者还倾向于形成肉芽肿，这可能导致胃肠道和泌尿生殖道梗阻。
回顾了10例CGD患者的病历，记录诊断时的年龄、手术操作、这些操作的并发症以及医疗治疗情况。
10名儿童中有8名是男性。首次就诊的平均年龄为18个月（范围为2天至9.8岁）。每个儿童平均发生9.9次感染，每年平均感染1.4次。所有患者均需要进行手术操作，平均每人2.9次。5名儿童在CGD诊断之前因感染接受了手术。最常进行的操作是软组织脓肿（7例）或直肠周围脓肿（3例）切开引流、胸腔穿刺（3例）和支气管镜检查（3例）。3名儿童术后伤口愈合不良。2名儿童出现部分胃出口梗阻，经抗生素治疗后缓解。1名儿童出现肉芽肿性膀胱炎伴梗阻，对抗生素治疗有反应。
由于未确诊的CGD患者可能出现手术问题，外科医生需要熟悉这种疾病。对于反复出现或不寻常感染或伤口愈合出现不明原因问题的儿童，应怀疑有该诊断。
