8例原发性免疫缺陷病患儿临床资料分析

Clinical analysis of 8 cases with primary immunodeficiency disease in children

目的探讨儿童原发性免疫缺陷病(PID)的临床特点及诊断要点。方法对我院近3年间收治的8例PID患儿的临床资料进行回顾性分析。结果 8例患儿中X连锁无丙种球蛋白血症(XLA)2例、选择性IgA缺乏症2例、慢性肉芽肿病1例(CGD)、X连锁高IgM综合征(XHIM)1例、先天性胸腺发育不全(DGS)1例、未确诊1例。8例患儿均有反复感染病史,感染部位主要是呼吸道,给予抗感染等治疗后,1例死亡、1例放弃治疗,其余6例均好转出院。结论对于反复感染,每次均需静脉用抗生素治疗的患儿,应需警惕PID的可能,并尽早进行细胞及体液免疫功能的初步筛查,以便于早期诊断、早期干预,提高生活质量。

Objective To investigate clinical features and critical diagnostic points about primary immunodeficiency diseases （PID） in children.Methods The clinical data of 8 children with PID receiving treatment during the last three years were retrospectively analyzed . Results Of the 8 cases of PID, 2 cases were confirmed with X-linked agammaglobulinaemia （XLA）, 2 cases with selective immunoglobulin A deficiency （ sIgAD） , 1 case with chronic granulomatous disease （ CGD） , 1 case with X-linked high immunoglobulin M （ XHIM） , 1 case with DiGeorge syndrome （ DGS） , and 1 case without being diagnosed definitely .Eight patients had history of recurrent infection and the major infective position was respiratory tract .After treated with antibiotics , one patient died , one gave up treatment , and the rest six discharged after infection being controlled .Conclusion For patients, who suffering repeated infections and have to be treated by antibiotics, attention should be paid to the possibility of PID .The function of cyto-mediated and humoral-mediated immunity should be screened for early diagnosis , early intervention and improving life quality .