普通变异型免疫缺陷病胃肠道受累患者的临床特点分析

Clinical characteristics of patients with common variable immunodeficiency complicated by gastrointestinal involvement

目的探讨普通变异型免疫缺陷病(common variable immunodeficiency,CVID)胃肠道受累患者的临床特点及抗生素疗效。方法回顾性分析2000年1月至2018年12月在北京协和医院住院并确诊为CVID,有腹泻症状且行内镜检查的17例患者的临床表现、实验室检查、内镜下表现、组织病理学特点及治疗情况。根据抗生素治疗效果将患者分成有效组和无效组,并进行组间比较。结果17例患者中,男10例(58.8%),中位发病年龄为25岁,从发病到确诊的中位时间为24个月。所有患者均有腹泻症状,其他常见的消化道症状包括恶心(41.2%)和腹痛(35.3%)。患者血清IgG、IgA和IgM的中位数分别为2.5 g/L、0.1 g/L及0.1 g/L。外周血淋巴细胞亚群分型提示存在B淋巴细胞比例降低(76.5%)、NK细胞比例降低(58.8%)、CD4+T淋巴细胞比例降低(41.2%)、CD8+T淋巴细胞比例升高(70.6%)及CD4+T/CD8+T比例倒置(70.6%)。最常见的内镜下表现是十二指肠肠黏膜充血水肿(82.4%)及绒毛萎缩(76.5%)。最常见的十二指肠黏膜活检病理改变包括固有层浆细胞缺乏(70.6%)、小肠绒毛钝缩(58.8%)及表面上皮内淋巴细胞增多(52.9%)。所有患者在病程中均曾接受抗生素治疗,有效组10例(58.8%),无效组7例(41.2%),两组间在临床表现、实验室检查、内镜下特点及组织病理学表现方面差异无统计学意义(P>0.05)。结论CVID胃肠道受累患者确诊较困难,存在体液免疫及细胞免疫紊乱,内镜下特点及组织病理学改变有助于诊断,部分患者的腹泻症状经经验性抗生素治疗效果欠佳。

Objective To investigate the clinical characteristics and outcomes of patients with common variable immunodeficiency(CVID)complicated with gastrointestinal involvement.Methods Seventeen CVID patients,who were complicated with diarrhea and receiving endoscopic procedures in Peking Union Medical College Hospital from Jan.2000 to Dec.2018 were enrolled.Data including demographics,gastrointestinal symptoms,laboratory tests,endoscopic findings,histopathological features and treatment were collected.Patients were divided into two groups based on the responses of antibiotic treatment,and further statistical analysis was performed for comparison.Results Among 17 CVID patients,10 cases(58.8%)were male.The median age of disease onset was 25 years old,and the median duration from onset to diagnosis was 24 months.The most prevalent symptoms were diarrhea(100%),nausea(41.2%)and abdominal pain(35.3%).The median serum IgG,IgA,and IgM were 2.5 g/L,0.1 g/L and 0.1 g/L,respectively.The tests for subtypes of lymphocytes showed decreased percentage of B lymphocytes(76.5%),NK cells(58.8%)and CD4+T lymphocytes(41.2%),increased percentage of CD8+T lymphocytes with an inversed ratio of CD4+T/CD8+T(70.6%).The major endoscopic findings were mucosal edema(82.4%)and villous atrophy(76.5%)in duodenum.The major histopathological features included plasma cells deficiency in lamina propria(70.6%),atrophy of the villi(58.8%),and increased intraepithelial lymphocytes(52.9%)in the biopsies of duodenum.Ten(58.8%)patients got recovery from diarrhea after empirical antibiotics medications.There was no statistically significant difference between the two groups in terms of clinical manifestation,laboratory tests,endoscopic findings and histopathological features(P>0.05).Conclusion CVID patients with gastrointestinal involvement are difficult to diagnose,with humoral and cellular immune abnormalities.Endoscopic and histopathological features are helpful for diagnosis.The diarrhea in some patients are refractory to empirical antibiotics medications.