X-连锁无丙种球蛋白血症合并播散型大肠弯曲菌感染1例  

A case of X-linked agammaglobulinemia complicated with disseminated Campylobacter coli infection

作　　者：袁依诺 丁明月 孙宇新 邱超 马森林 陈明泉 YUAN Yinuo;DING Mingyue;SUN Yuxin;QIU Chao;MA Senlin;CHEN Mingquan(Department of Emergency,Huashan Hospital,Fudan University,Shanghai 200040,China;Department of Infectious Diseases,the People’s Hospital of Sheyang County,Yancheng 224399,China)

机构地区：[1]复旦大学附属华山医院急诊科,上海200040 [2]江苏省射阳县人民医院感染科,盐城224399

出　　处：《上海医药》2025年第1期20-23,82,共5页Shanghai Medical & Pharmaceutical Journal

摘　　要：本文报告1例26岁男性患者,因左下肢溃烂8月,加重伴反复高热及行走困难3月就诊于急诊。患者来院前以皮肤软组织感染在多家医院就诊,曾接受抗生素治疗、局部清创及植皮术,但病情反复,创面难愈。入院后检查发现外周血及骨髓培养均检出大肠弯曲菌,B细胞的数量为0,免疫球蛋白定量低于检测下限,进一步检查发现患者存在X-连锁基因突变(BTK突变),由此厘清了X-连锁基因突变(BTK突变)所致的无丙种球蛋白血症是该患者反复皮肤软组织感染并经久不愈的潜在原因,遂得以确诊。经丙种球蛋白替代治疗以及敏感抗菌药物治疗后,患者得以完全康复。该病例的诊治过程揭示了宿主免疫功能与感染之间的关联性,临床中对反复发作、经久不愈的感染,须重视宿主免疫功能等方面潜在原因的排查。This report described a 26-year-old male patient who presented to the emergency department with an ulceration of his left lower limb for 8-months and exacerbation with recurrent high fever and difficulty walking for 3 months.Before admission,the patient had been treated with antibiotics,local debridement and skin grafting at multiple hospitals for skin and soft tissue infections.However,his condition relapsed repeatedly,and the wound failed to heal.Post-admission examination revealed that Campylobacter coli existed in peripheral blood and bone marrow cultures,B-cell count was zero and immunoglobulin quantification bellowed the lower limit of detection.Further examination revealed the presence of an X-linked mutation(BTK mutation)in the patient,which clarified that gammaglobulinemia due to the X-linked mutation(BTK mutation)was the underlying mechanism for the recurrent and persistent soft-tissue infections,so that the diagnosis was confirmed.The patient achieved complete recovery following immunoglobulin replacement therapy and treatment with targeted antibiotics.The diagnosis and treatment of this case reveal the relationship between host immune function and infection,and it is necessary to pay attention to the investigation of potential causes of recurrent and persistent infections in clinical practice.

关 键 词：X-连锁无丙种球蛋白血症 播散型大肠弯曲菌感染 免疫缺陷 

分 类 号：R517.9[医药卫生—内科学] R593.31[医药卫生—临床医学]