严重联合免疫缺陷病十例临床分析  

Clinical analysis of 10 cases of severe combined immunodeficiency disease

作　　者：王佳[1] 韩晓华[1] 蔡栩栩[1] 陈宁[1] 尚云晓[1] Wang Jia;Han Xiaohua;Cai Xuxu;Chen Ning;Shang Yunxiao(Department of Pediatric Respiratory,Shengjing Hospital of China Medical University,Shenyang 110004,China)

机构地区：[1]中国医科大学附属盛京医院小儿呼吸科,沈阳110004

出　　处：《中国小儿急救医学》2018年第12期948-952,共5页Chinese Pediatric Emergency Medicine

摘　　要：目的提高儿科医师对严重联合免疫缺陷病(severe combined immunodeficiency,SCID)的认识,从而加强对SCID的早期甄别及治疗。方法回顾性分析我院2007至2018年期间收住院治疗的10例SCID患儿的临床表现、相关免疫学检查结果、影像学表现及转归情况。结果SCID的临床表现为出生后短时间内即发生频繁且严重的感染,10例患儿,男8例,女2例,平均发病年龄4.2个月,平均诊断年龄6个月;肺部影像学示8例胸腺影缺如,9例肺CT示重症肺炎,3例并发肺部真菌感染。7例死亡患儿中,6例因感染死亡,死亡年龄均<1岁。实验室检查提示10例患儿均有细胞和体液免疫功能异常;10例CD3^+T细胞均<20%,CD16^+CD56^+(NK%)3例 >85%,7例≤2%;7例B细胞反应性增高,但5例分泌免疫球蛋白功能均明显降低。IgG<2.0g/L7例, >2.0g/L3例。8例患儿行基因检测证实为SCID。结论SCID的临床表现为生后短时间内即发生频繁的细菌、病毒及真菌感染,在临床工作中对于小婴儿生后反复发生感染,或多部位严重感染且迁延不愈时,要想到SCID的可能并及时行相关免疫功能检查,争取做到早期诊断,及时治疗,尽早行骨髓干细胞移植。Objective To improve the pediatrician′s understanding of severe combined immunodeficiency disease (SCID), so as to strengthen the early diagnosis and treatment of SCID. Methods The clinical manifestations, related immunological findings, imaging findings and outcomes of 10 SCID children admitted to our hospital from 2007 to 2018 were retrospectively analyzed. Results The clinical manifestations of primary SCID were frequent infections shortly after birth.There were 8 males and 2 females in this study.The average age of onset was 4.2 months, and the average age of diagnosis was 6 months.Eight cases of thymus shadow were absent, 9 cases of pulmonary CT showed severe pneumonia, and 3 cases of pulmonary fungal infection.Six of 7 children died of infection and the age of death was less than 1 year old.Laboratory examination showed that 10 patients had abnormal cell and humoral immune function;10 cases of CD3^+ T cells were <20%, 3 cases of CD16^+ CD56^+ (NK%) >85%, 7 cases ≤ 2%.There was an increase in B cell reactivity of 7 cases, but the secretion of immunoglobulin in 5 cases was significantly reduced.Seven cases of IgG<2.0 g/L, 3 cases >2.0 g/L.Eight cases were confirmed of the primary SCID by genetic testing. Conclusion The clinical manifestations of SCID are frequent bacterial, viral and fungal infections in a short time after birth.In clinical work, when small infants are repeatedly infected after birth, or multiple sites are seriously infected and prolonged, we must think of the possibility of SCID and timely related immune function tests, strive to achieve early diagnosis, timely treatment, and early bone marrow stem cell transplantation.

关 键 词：严重联合免疫缺陷病 儿童 

分 类 号：R725.9[医药卫生—儿科]