新生儿原发性免疫缺陷病5例临床分析并文献回顾

Neonatal primary immunodeficiency disease-clinical characteristics of 5 cases and literature review

目的探讨新生儿原发性免疫缺陷病的临床特征,以提高对本病的认识。方法对5例新生儿期诊断原发性免疫缺陷病的临床表现、实验室检查、辅助检查以及诊断治疗情况、转归等临床资料进行回顾性分析以及复习相关性文献资料,以进一步提升对该疾病患者病情和治疗的认识。结果 5例患者中大多数以反复发热为首发症状,合并败血症、脑膜炎、肠道感染等消化系统并发症,并可累及血液、皮肤等多个系统。5例患者均给予抗感染、营养支持治疗,大多数感染症状得到了明显控制。实验室检查发现患儿的血常规表现为绝对淋巴细胞计数减少,免疫球蛋白Ig G浓度检测或减少等。结论对于生后即出现反复的不能治愈的感染应考虑新生儿原发性免疫缺陷病的可能,需特别注意绝对淋巴细胞计数,以便及时发现并诊断本病。

Objective To investigate the clinical characteristics of neonatal primary immunodeficiency disease,and to improve the understanding of the disease.Methods In order to further enhance the understanding of the disease and treatment of disease we collected clinical data(clinical manifestations,laboratory examination,auxiliary examination,diagnosis,treatment and prognosis)of 5 cases with neonatal congenital immunodeficiency disease;and then retrospectively analyzed and the related literature review.Results Most of the 5 patients presented with repeated fever as the first symptom.They also had some complications such as sepsis,meningitis and intestinal infection;and this disease could involve blood,skin and other systems.5 patients were given anti-infection and nutritional support treatment,most of them were obviously controlled.The lab examination of the patient showed the decreased number of lymphocyte and immunoglobulin.Conclusion The newborns with recurrent and incurable infection should consider the possibility of neonatal primary immunodeficiency disease.Special attention should be paid to lymphocyte count in order to detect and diagnose the disease in time.