儿童原发性免疫缺陷病35例临床分析

目的：了解儿童原发性免疫缺陷病（PID）的临床特点。方法：对2005年9月至2008年12月收治的35例PID患儿的临床资料进行分析，包括现病史，个人史，家族史，临床表现，实验室检查，诊断情况，住院期间治疗和转归等情况。结果：35例PID中，T、B细胞联合免疫缺陷病6例，X连锁无丙种球蛋白血症4例，选择性IgG亚类缺陷22例，常见变异性免疫缺陷病1例，慢性肉芽肿病2例。全部病例均有发热，并伴反复感染，感染部位主要是呼吸道和消化道，其中部分患儿生长发育落后于正常同龄儿。采用人血丙种球蛋白输注、抗感染等综合治疗,除2例放弃治疗，1例转外院治疗外，其余均好转出院。结论：对反复感染或伴发自身免疫性疾病，长期使用抗生素无效的患儿，应详细询问病史、家族史，注意PID的可能，及早进行免疫功能测定，以利于早期识别和诊断。［中国当代儿科杂志，2010，12（8）：625-629］

Primary immunodeficiency diseases in children: clinical analysis of 35 cases

Objective To summarize clinical features of primary immunodeficiency diseases(PID)in children.Methods The clinical data of 35 children with PID from September 2005 to December 2008 were studied retrospectively,including illness history,birth history,family history,clinical manifestations,laboratory findings,diagnosis,treatment and outcome.Results Of the 35 cases of PID,6 cases were confirmed with combined T-and B-cell immunodeficiency,4 cases with X-linked agammaglobulinaemia,22 cases with selective IgG subclass deficiency,1 case with common variable immunodeficiency and 2 cases with chronic granulomatous disease.All cases had fever and recurrent infections.Respiratory and digestive tract infections were the most common clinical manifestation.Some of the PID cases lagged behind the normal children of the same age in growth and development.Human γ-globulin transfusion and anti-infection therapy were administered.Two patients discontinued the therapy,one was transferred to the other hospital and the other 32 patients were discharged following improvement in clinical symptoms.Conclusions PID should be considered in children who suffer from recurrent infections and autoimmune diseases or do not respond to long-term use of antibiotics.Immunologic tests should be done as early as possible for the children.