儿童原发性免疫缺陷病27例临床特点分析

Analysis of clinical features of 27 children with primary immunodeficiency

目的了解儿童原发性免疫缺陷病（PID）的临床特点，提高对该病的诊断率并予及时治疗，改善生活质量，延长存活时间。方法对2003年12月至2011年11月在中国医科大学附属盛京医院儿科病房住院且被诊断为PID的27例患儿临床资料进行回顾性分析，记录病史、出生史、家族史、临床表现、实验室检查、诊断、治疗和转归等情况。结果27例PID患儿中以抗体缺陷为主的免疫缺陷病13例（48．15％），联合免疫缺陷病6例（22．22％），吞噬细胞数量和／或功能缺陷4例（14．81％），其他定义明确的免疫缺陷综合征4例（14．81％）。其共同特点为反复、严重、持久的感染，但病因不同，又有其各自的特点。24例临床表现为反复感染，感染部位主要是呼吸道，其次是中耳炎；有家族病史7例。病死率为37．04％（10／27例）。结论PID以抗体缺陷为主；部分类型有其独有特点，根据症状、体征可进行相应的检查以明确诊断；约25％的患儿有阳性家族史；病死率高。对反复感染，特别是反复患呼吸道感染或中耳炎的患儿，结合家族史，应尽早行免疫学检查，以早期识别和诊断PID。

Objective To investigate the detection and clinical features of primary immunodeficiency disorders （PID） in children for an earlier diagnosis of disease. Methods The clinical data of the 27 children with PID diagnosed in Shengjing Hospital Affiliated to China Medical University from Dec. 2003 to Nov. 2011 were reviewed, including illness history, birth history, family history, clinical feature, laboratory data, diagnosis, treatment and outcome, etc. Results In 27 children with PID, antibody deficiencies were the most frequent findings （48.15%, 13/27 cases）, followed by combined immunodeficiency （22.22% ,6/27 cases）,phagocytic disorders （14.81% ,4/27 cases）,and immunodeficiency with other major defects accounted for 14.81% （4/27 cases）. PID was characterized by recurrent, severe and prolonged infection, but all kinds of PID had their own clinical features. Recurrent infections occurred in 24 cases. Respiratory infections and otitis media were the most common chnical manifestation. Seven patients had a family history. The fatality rate was 37.04% （ 10/27 cases）. Conclusions There are vast varieties of PID in our area and antibody deficiencies are the most common type. All kinds of PID have their own clinical features, which may guide us to choose appropriate lab examination. There are nearly 25% patients with PID who have family history. The fatality rate is high. Patients who suffer from recurrent infections, especially respiratory infections or otitis media, or those with a family history should have early immunology testing so as to be detected and diagnosed of PID earlier.