儿童原发性免疫缺陷病的临床特点

Clinical Features of Primary Immunodeficiency in Children

目的了解儿童原发性免疫缺陷病(PID)的临床特点,以助于早期识别和诊断。方法对本院儿科住院诊断为PID的26例病例进行回顾性分析,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PID中选择性IgA缺乏症6例,普通变异性免疫缺陷病、婴儿暂时性低丙种球蛋白血症各5例,T、B细胞联合免疫缺陷病、湿疹血小板减少伴免疫缺陷综合征各4例,慢性肉芽肿病2例。25例临床表现为反复感染,感染部位主要是呼吸道和消化道;确定有条件致病菌感染6例,自身免疫性疾病5例,有家族病史6例。住院期间死亡、放弃治疗各1例,其他病情好转出院。结论对反复感染、条件致病菌感染或伴自身免疫性疾病患儿,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 realize the clinical features of primary immunodeficiency （PID） in children for early detection and diagnosis. Methods Twenty - six children with PID in our hospital were retrospectively analyzed. Clinical informations were collected including illness history,birth history,family history,clinical feature,laboratory data,diagnosis,treatment and outcome,etc. Results The distribution of PID ca- ses were as follows..4 cases with combined T - and B -cell immunodeficiency, 5 cases with common variable immunodeficiency disorders,6 ca- ses with selective lgA deficiency,5 cases with transient hypogammaglobulinemia of infancy ,4 cases with Wiskott -Aldrich syndrome,2 eases with chro-nic granulomatous disease. Recurrent infections occurred in 25 cases. Respiratory and digestive tracts infections were the most common clinical manifestation. Six cases definitely suffered from opportunistic infections. Autoimmune diseases occurred in 5 cases. Six patients had a family history. One of the PID patients died ; one of these patients gave up therapy; the other patients＇ condition were improved. Conclusion Patients who suffers from recurrent infections, opportunistic infections and autoimmune diseases, or with a family history should have immunology testing early ,so as to get early detection and diagnosis of PID.