CAJ | 학술논문

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。
목적：탐토인동원발성면역결함병（ PID）적림상특점급진단요점。방법대아원근3년간수치적8례PID환인적림상자료진행회고성분석。결과8례환인중X련쇄무병충구단백혈증（ XLA）2례、선택성IgA결핍증2례、만성육아종병1례（CGD）、X련쇄고IgM종합정（XHIM）1례、선천성흉선발육불전（DGS）1례、미학진1례。8례환인균유반복감염병사，감염부위주요시호흡도，급여항감염등치료후，1례사망、1례방기치료，기여6례균호전출원。결론대우반복감염，매차균수정맥용항생소치료적환인，응수경척PID적가능，병진조진행세포급체액면역공능적초보사사，이편우조기진단、조기간예，제고생활질량。
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 .