案例#1
一名 1 岁儿童表现为持续数天的纳差和少动,并出现新发发热。值得注意的是,既往有两次直肠周围脓肿的病史。体格检查显示为轻度病容,无急性不适,右上肺野呼吸音减弱。
案例#2
一名 4 岁女孩,其父母为近亲婚姻,因持续 3 天的右颈部疼痛与肿胀前来就诊。该患者无发热。既往病史包括 2 岁时的软组织脓肿,需要切开与引流治疗。病变部位培养显示金黄色葡萄球菌为阳性。体格检查显示,外观状况良好,可以触到大小 3 cm×2 cm、轻度温热、有压痛的右颈前淋巴结。
其他表现
在少数情况下,CGD 会出现在青少年与年轻成人中。[3]Winkelstein JA, Marino MC, Johnston RB Jr., et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000;79:155-169.http://www.ncbi.nlm.nih.gov/pubmed/10844935?tool=bestpractice.com[4]van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4:e5234.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668749/?tool=pubmedhttp://www.ncbi.nlm.nih.gov/pubmed/19381301?tool=bestpractice.com 这些表现的一个不常见的病因为分枝杆菌感染。[1]Rosenzweig SD, Uzel G, Holland SM. Phagocyte disorders. In: Stiehm ER, Ochs HD, Winkelstein JA, eds. Immunologic disorders in infants and children. Philadelphia, PA: Elsevier Saunders; 2004:618-651.[3]Winkelstein JA, Marino MC, Johnston RB Jr., et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000;79:155-169.http://www.ncbi.nlm.nih.gov/pubmed/10844935?tool=bestpractice.com[5]Bustamante J, Aksu G, Vogt G, et al. BCG-osis and tuberculosis in a child with chronic granulomatous disease. J Allergy Clin Immunol. 2007;120:32-38.http://www.ncbi.nlm.nih.gov/pubmed/17544093?tool=bestpractice.com 慢性结肠炎(经常被诊断为炎症性肠病)或者胃肠道或尿路梗阻的症状可能在感染体征之前出现。[6]Marciano BE, Rosenzweig SD, Kleiner DE, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004;114:462-468.http://www.ncbi.nlm.nih.gov/pubmed/15286231?tool=bestpractice.com[7]Huang JS, Noack D, Rae J, et al. Chronic granulomatous disease caused by a deficiency of p47phox mimicking Crohn's disease. Clin Gastroenterol Hepatol. 2004;2:690-695.http://www.ncbi.nlm.nih.gov/pubmed/15290662?tool=bestpractice.com[8]Huang A, Abbasakoor F, Vaizey CJ. Gastrointestinal manifestations of chronic granulomatous disease. Colorectal Dis. 2006;8:637-644.http://www.ncbi.nlm.nih.gov/pubmed/16970572?tool=bestpractice.com[9]Schappi MG, Smith VV, Goldblatt D, et al. Colitis in chronic granulomatous disease. Arch Dis Child. 2001;84:147-151.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1718666/pdf/v084p00147.pdfhttp://www.ncbi.nlm.nih.gov/pubmed/11159292?tool=bestpractice.com[10]Schappi MG, Klein NJ, Lindley KJ, et al. The nature of colitis in chronic granulomatous disease. J Pediatr Gastroenterol Nutr. 2003;36:623-631.http://www.jpgn.org/pt/re/jpgn/fulltext.00005176-200305000-00006.htmhttp://www.ncbi.nlm.nih.gov/pubmed/12717086?tool=bestpractice.com[11]Walther MM, Malech H, Berman A, et al. The urological manifestations of chronic granulomatous disease. J Urol. 1992;147:1314-1318.http://www.ncbi.nlm.nih.gov/pubmed/1569675?tool=bestpractice.com 一项研究显示 33% 的患者被记录到有胃肠道疾病和伴随的腹痛。[6]Marciano BE, Rosenzweig SD, Kleiner DE, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004;114:462-468.http://www.ncbi.nlm.nih.gov/pubmed/15286231?tool=bestpractice.com 由金黄色葡萄球菌引发的肝脓肿,尤其是慢性的或复发性的,提示可诊断为 CGD。[12]Lublin M, Bartlett DL, Danforth DN, et al. Hepatic abscess in patients with chronic granulomatous disease. Ann Surg. 2002;235:383-391.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422444/?tool=pubmedhttp://www.ncbi.nlm.nih.gov/pubmed/11882760?tool=bestpractice.com