中国实用儿科杂志

中国实用儿科杂志 ›› 2011, Vol. 26 ›› Issue (03): 195-.

• 论著 • 上一篇    下一篇

儿童严重联合免疫缺陷病4例临床分析

  

  1. 中国医科大学附属盛京医院儿科，沈阳　110003
  • 出版日期:2011-03-06 发布日期:2011-03-04

Clinical analysis of 4 children with severe combined immunodeficiency.　　

  1. Department of Pediatrics，Shengjing Hospital Affiliated to China Medical University，Shenyang110003，China
  • Online:2011-03-06 Published:2011-03-04

摘要：

提高对严重联合免疫缺陷病（SCID）的认识，加强早期诊断及治疗。方法　回顾性分析中国医科大学附属盛京医院2007—2009年收治的4例SCID患儿临床表现、家族史、影像学资料、相关实验室检查及治疗结果。结果　4例患儿均男性。临床表现为生后不久即发生频繁的呼吸道、皮肤及口腔感染。2例有明确家族史。影像学资料显示，4例均存在胸腺缺如。细胞和体液免疫功能均异常，其中3例CD3+T细胞 < 20%，1例为29%；2例CD16+CD56+（NK%）≥2%，2例 < 2%；2例IgG≥2.0 g/L，2例 < 2.0 g/L。4例均有B细胞增高，但B细胞功能均明显降低。4例行基因检测证实为T-B+SCID，均死亡，3例病死原因为反复发生的多系统感染，1例病死原因为造血干细胞移植免疫排斥反应，病死年龄均 < 6个月。结论　对生后不久即发生反复、严重、多部位、难治性感染患儿，若胸部影像学提示胸腺影甚小或缺如时，应想到SCID的可能。需及时行免疫功能检查，以确保及早诊断、早期行造血干细胞移植术。

关键词: 严重联合免疫缺陷病, 胸腺缺如, 造血干细胞移植

Abstract:

To improve the understanding about severe combined immunodeficiency（SCID） and enhance early diagnosis and treatment. Methods　Totally 4 children with severe combined immunodeficiency were collected from 2007 to 2009 in Shengjing Hospital of China Medical University， and the clinical manifestations， family history， imaging data， related lab test results and treatment effects were analyzed. Results　The four children were all boys； the mean age of first symptoms occurring was 2.5 months； the clinical findings were frequent infections of respiratory tract， skin and oral cavity， which occurred shortly after birth. Two cases had definite family history. Imaging data of 4 cases showed thymus absence. Cellular and humoral immune function were all abnormal，in T cell < 20% 3 cases，and 1 was 29%， CD16+CD56+（NK%） > 2% or IgG > 2.0 g/L was observed in 2 out of 4 cases.B cells were increased in 4 cases， but the B cell function was obviously reduced.The gene detection result of 4 cases was T-B+SCID. Four cases died， 3 cases died of recurrent multi-system infection and 1 died of immunological rejection. The mean age at death was < 6 months. Conclusion　If infants have recurrent， severe， multi-position， refractory infection shortly after birth and Chest imaging prompted the thymus shadow is very small or absent， SCID should be suspected and immune function test should be made in time， so that an early diagnosis can be made ，and treatment with haemopoietic stem cell transplant can be given earlier.

Key words: severe combined immunodeficiency, thymus absence, haemopoietic stem cell transplant