摘要
Abstract
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.关键词
肉芽肿病,慢性/婴儿/误诊/肺炎/软组织感染Key words
Granulomatous disease, chronic/Infant/Misdiagnosis/Pneumonia/Soft tissue infections分类
医药卫生
