完全DiGeorge综合征1例分析及文献复习  

One case report of complete DiGeorge syndrome and literature review

作　　者：肖琴[1] 张国英[1] 陈丽娜[2] 

机构地区：[1]成都市儿童医院,四川成都610017 [2]四川省人民医院

出　　处：《中外医学研究》2010年第30期195-196,F0003,共3页CHINESE AND FOREIGN MEDICAL RESEARCH

摘　　要：目的分析完全DiGeorge综合征的临床特点，并探讨其发病机制及治疗。方法对一例以咳嗽14d，发热7d，气促发绀1d为主诉的3个月患儿进行临床和实验室总结，并结合文献进行分析。结果鉴于患儿在婴幼儿早期即发生严重的、致死性的机会感染，两次外周血T细胞亚群检测几乎为零，排除了HIV感染，也无明显的已知病因及治疗相关因素引起免疫功能抑制，胸片和CT增强均未见胸腺影，因此最后诊断考虑为：原发性免疫缺陷病（完全DiGeorge综合征）、严重脓毒症、肺部感染、呼吸衰竭。结论尽管DiGeorge综合征比较少见，尤其是完全DiGeorge综合征，但是在临床工作中仍可以见到。因此要提高认识和警惕，对出现机会感染和复杂感染的患儿应及时考虑到免疫功能可能存在问题，进一步明确病因；重视胸腺的影像学检查，如胸腺缺如早期诊断胸腺缺如，以利于患儿的治疗和康复。Objective To explore the clinical features and treatment of complete DiC, eorge syndrome. Methods The clinical features and laboratory data of a 3 - months - old boy with coughs, fever and shortness of breath admitted in Apile 2010 was analyzed. The similar cases and relatd literatures were reviewed. Results The patient faced such fatal infection in his early infancy serious;two T cell subsets from peripheral blood is almost zero ; neither evidence of HIV infection and nor any other causes that can induce immuno - suppression of this patient could be found;Chest radiograph and CT showed no thymic shadow enhancement. The final diagnosis was determined as：primary immunodeficiency disease （ complete DiGeorge syndrome） , severe sepsis, pulmonary infection and respiratory failure. Conclusion Though DiGeorge syndrome is a rare disease, especially the full DiGeorge syndrome, still can be seen in the clinical work. More attention should be paid to those patients with opportunistic infaction or complex infection, and consider the possibility of immunodeficiency.

关 键 词：完全DiGeorge综合征: 文献复习 

分 类 号：R654.2[医药卫生—外科学]