摘要
目的探讨高IgM血症(hyper IgM syndrome HIM)的临床特点,实验室检查以及最新诊治进展。帮助临床医生加深对本病的认识。合理检查,合理治疗,让患儿高质量存活。方法回顾性分析1例高IgM血症患儿的临床资料。结果患儿反复感染,血常规检查反复中性粒细胞减少,免疫球蛋白IgG(immunoglobin G),IgA(immunoglobin A)明显减低,IgM(immunoglobin M)正常,基因检测,结果提示:CD40LG基因半合变异。给予每月输注人免疫球蛋白治疗,随访1年未再发生感染,多次复查血常规中性粒细胞正常。结论高IgM血症临床少见,感染后应用抗生素效果欠佳,多数患儿发生难以控制的重症感染,及早诊断,规律应用人免疫球蛋白治疗可减少重症感染发生,改善预后。
Objective To explore the clinical characteristics,laboratory tests and latest diagnosis and treatment progress in children with Hyper-IgM syndromes(HIGM).To help clinicians deepen their understangding of the disease.Reasonable examination,reasonable treatment,so that children with high quality survival.Methods Clinical features and laboratory examination results of one children with HIGM were retrospectively analyzed.Results Repeated infection,repeated neutropenia,immunoglobulin G(IgG),IgA(immunoglobulin A)were significantly reduced,IgM(IgM)were normal.Gene detection showed that CD40LG gene was hemizygous mutation.He was given infusion of human immunoglobulin monthly,followed by 1 year of follow-up without recurrence of infection,and repeated routine blood neutrophils were normal.Conclusion Hyper IgM syndrome is rare in clinic, and the effect of antibiotics afterinfection is not good. Most children have severe infection whichis difficult to control. Early diagnosis and regular application ofhuman immunoglobulin therapy can reduce the occurrence of severeinfection and improve the prognosis.
作者
刘秀平
陶珊
LIU Xiuping;TAO Shan(Neonatal Key Laboratory,Xiamen Children’s Hospital,Xiamen Fujian 361000,China)
出处
《中国卫生标准管理》
2020年第20期117-119,共3页
China Health Standard Management
