婴儿慢性肉芽肿病三例临床误诊分析

Misdiagnosis Analysis of Chronic Granulomatous Disease in 3 Infants

目的探讨婴儿慢性肉芽肿病(chronic granulomatous disease,CGD)的临床特点,减少误诊误治。方法对我院收治并确诊为婴儿CGD 3例的临床资料进行回顾性分析,并复习相关文献。结果本组3例均为男性,发病年龄平均2.3个月,确诊年龄平均4.6个月,2例有家族史。3例均因反复咳嗽、喘息伴发热就诊,伴左侧腋下淋巴结增大、腹泻、皮肤脓肿各1例。病初误诊为重症肺炎、皮肤软组织感染、卡介菌病等,予对症治疗后症状未见好转。入院后行相关医技检查及基因测序,确诊为CGD,其中1例死亡,1例放弃治疗,1例治疗后病情稳定带药出院。结论婴儿CGD早期诊断较困难,及时行基因测序及中性粒细胞呼吸暴发试验有助于明确诊断,避免误诊误治。

Objective To investigate the clinical features of infants with chronic granulomatous disease(CGD)in order to avoid misdiagnosis and mistreatment.Methods The data of 3 CGD infants admitted to Xiaogan Central Hospital were analyzed retrospectively and related literature was reviewed.Results There were 3 male infants,with an average age of 2.3 months at onset and of 4.6 months at diagnosis.All 3 cases had repeated cough,wheeze and fever,including 1 with the left axillary lymph node enlargement,1 with diarrhea,and 1 with repeated skin abscess.The disease was misdiagnosed as severe pneumonia,skin soft tissue infection and BCG,and the symptoms were not improved after conventional treatment.After admission,the patients underwent the medical examinations and gene analysis,and were diagnosed as having CGD.Unfortunately,one case died,one case gave up treatment and was lost to follow-up,and one was discharged in a stable condition.Conclusion Early CGD in infants is characterized by pulmonary infection,leading to difficult diagnosis in clinical practice.Neutrophil respiratory burst detected by flow cytometry-DHR assay contributes to primary screening,and further improvement of gene testing can be used to confirm the diagnosis.