摘要
目的:探讨以消化道症状慢性腹泻为主要表现的普通变异型免疫缺陷(common variable immunodeficiency,CVID)的临床及病理特点,提高消化科医师对该病的认识。方法:回顾性分析我院2000年1月-2018年10月以慢性腹泻为就诊症状,确诊为CVID的10例患者的临床资料、实验室检查、影像学检查、组织病理及治疗和预后。结果:10例患者男女比例7∶3,平均发病年龄(30.5±17.3)岁,发病到确诊中位时间为17.5(7.5,37.5)个月。慢性腹泻主要表现为稀糊状便,胶冻状,平均约4~5次/d,无黏液、脓血便,严重者水样泻可达10~20次/d,其中2例伴有间歇性发热表现。所有患者均伴有明显低钾血症及不同程度低蛋白血症。8例合并不同程度的贫血。全部病例以检测到免疫球蛋白(immunoglobuline,Ig)G、IgM、IgA降低确诊。8例患者的淋巴细胞检测显示,4例出现CD4/CD8比例倒置。4例存在胃肠道感染,主要为寄生虫、结核、EB病毒(Epstein-Barr virus,EBV)及机会性真菌感染。胃肠镜表现多样性,主要有十二指肠球部及结肠结节样增生、小肠溃疡、绒毛变钝等表现,病理学主要表现为上皮下淋巴细胞浸润,浸润的淋巴细胞主要以CD8+淋巴细胞为主,浆细胞缺失。腹部影像学普遍(8/10)存在腹部肠系膜淋巴结增大,3例出现小肠肠壁增厚,7例存在脾脏肿大。3例合并自身免疫性疾病,3例合并肾小管酸中毒。9例患者接受丙种球蛋白治疗,4例同时给予肾上腺糖皮质激素治疗,4例合并感染同时给予对应抗感染治疗,临床症状均好转。结论:CVID胃肠道表现尤其是慢性腹泻发生率较高,应重视这类患者的胃肠镜及组织病理学检查。临床应重视对该病的诊断并进一步提高认识。
Objective To improve the understanding of the clinical and pathological characteristics of common variable immunodeficiency(CVID)presenting digestive symptoms and chronic diarrhea.Methods Ten cases of CVID with chronic diarrhea as major symptoms admitted from January 2000 through October 2018,including 7 males and 3 females,were analyzed retrospectively.The clinical data were retrieved and findings of laboratory assay,imaging examination and histopathology were reviewed.Results The average age of disease onset was(30.5±17.3)years old,and the median time from onset to diagnosis was 17.5(7.5,37.5)months.The diagnosis of CVID was established due to the presence of hypoimmunoglobulinemia.Four of 8 patients tested for subtypes of lymphocytes in 8 patients showed an inverse ratio of CD4/CD8,indicating T cell dysfunction.Most patients manifested frequent,averagely about 4-5 times/d,mushy,jelly-like chronic diarrhea without mucus,pus or blood.The severe cases presented watery diarrhea for 10-20 times/d.All patients had significant hypokalemia and varying degrees of hypoproteinemia;8/10 of patients suffered from varying degrees of anemia,intermittent fever was recorded in 2 patients,and patients had gastrointestinal infections,mainly parasites,tuberculosis,Epstein-Barr virus(EBV)and opportunistic infections,which were controlled by antiinfection therapy.The duodenal and colon nodular hyperplasia,small intestinal ulcers and dull villi were common findings of gastroscopy.The infiltration of subepithelial lymphocytes,mainly infiltration of CD8+lymphocytes in the absence of plasma cells,was characteristic pathological manifestation.Abdominal mesenteric lymph node hyperplasia,splenomegaly and thickening of the small intestine wall were revealed by abdominal imaging in 8/10,7/10 and 3/10 of patients.Combined autoimmune disease were diagnosed in 3 cases,and 3 patients were complicated renal tubular acidosis.Nine patients were treated with gamma globulin,and hormonal therapy were administered in 4 patients at the same time.Clinical symptoms were all improved by the treatment.Conclusions The gastrointestinal symptoms,especially chronic diarrhea,are common,and may be the initial manifestations of CVID,and should raise vigilance of the disease.
作者
王华枫
李为光
孙菁
钱爱华
WANG Huafeng;LI Weiguang;SUN Jing;QIAN Aihua(Department of Pathology,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;Department of Gastroenterology,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China)
出处
《内科理论与实践》
2020年第3期167-173,共7页
Journal of Internal Medicine Concepts & Practice
