普通变异性免疫缺陷病并细胞免疫功能缺陷致支气管扩张、肝硬化一例并文献复习

Common variable immune deficiency with cellular immunodeficiency leading to bronchiectasis and liver cirrhosis: case report and literature review

目的探讨普通变异性免疫缺陷病的发病机制、临床表现、诊断及治疗,提高临床对此病的认识,减少误诊、漏诊。方法对1例普通变异性免疫缺陷病并细胞免疫功能缺陷致支气管扩张、肝硬化患者的临床表现、实验室检查、影像学改变、治疗进行报道并结合相关文献分析。结果患者女性,52岁,因"反复咳嗽咳痰20+年,间断双下肢水肿7年,加重3个月"入院。CT提示支气管扩张、肝硬化、门脉高压。免疫球蛋白提示IgA、IgG显著降低,细胞免疫提示CD4+T细胞计数降低。结合患者临床表现拟诊为普通变异性免疫缺陷病合并细胞免疫功能缺陷。予丙种球蛋白20 g治疗后患者症状明显缓解。文献复习共检索到普通变异性免疫缺陷病病例报道288篇,共8 000余例。除国外一篇对上千例患者分析外,其余多为散发报道或小样本报道。结论普通变异性免疫缺陷病在我国发病率较低,大多由于遗传因素引起,属于罕见病。当患者出现常见部位的反复感染或非常见及条件致病菌感染且治疗效果较差时,应提高警惕并及早治疗,有条件时可行家系基因检测。

Objective To investigate the pathogenesis, clinical manifestations, diagnosis and treatment of common variable immune deficiency(CVID). Methods One case of CVID with cellular immunodeficiency leading to bronchiectasis and liver cirrhosis was analyzed retrospectively. Relevant literatures were also searched through WanFang Database, China National Knowledge Infrastructure and PubMed, Ovid, Embase, Cochrane using the key words 'common variable immunodeficiency', 'common variable hypogammaglobulinemia' in Chinese and English.Results A 52-year-old female patient, complained of cough, expectoration for 20 years, edema for 7 years and aggravated for 3 months with a history of recurrent respiratory infections was hospitalized in the West China Hospital of Sichuan University. The chest computed tomography revealed bronchiectasis, liver cirrhosis and portal hypertension. Laboratory tests showed remarkable hypogammaglobulinemia. The CD4+ T-cell count was below the normal range. Probable diagnosis of CVID was made based on clinical characteristics and laboratory tests. Immunoglobulin infusion with a dose of 20 g was given and the symptoms were relieved. About 288 case reports including 8 000 patients were searched. Most of them were reported individually. Conclusions CVID has a low morbidity and is rare in China. It is mostly caused by genetic factors. When there are recurrent infections in common areas of body, infections in rare areas or infections of conditioned pathogen, clinicians should be vigilant and give intervention as soon as possible. Family and genetic researches could be done when permitted.