Good综合征诊治一例  

Diagnosis and treatment of Good’s syndrome: a case report

作　　者：陈珊珊 郭子文[1] 叶永斌[1] 苏冰源 黄贵年[1] Chen Shanshan;Guo Ziwen;Ye Yongbin;Su Bingyuan;Huang Guinian(Division of Hematology,Affiliated Zhongshan Hospital,Sun Yat-sen University,Zhongshan 528403,China)

机构地区：[1]中山大学附属中山医院(中山市人民医院)血液内科,中山528403

出　　处：《新医学》2021年第10期795-799,共5页Journal of New Medicine

基　　金：中山市社会发展攻关计划(医疗)(2016B1023)。

摘　　要：Good综合征(伴胸腺瘤的免疫缺陷症)是一种成人免疫缺陷病,特点是合并胸腺瘤及低丙种球蛋白血症。该病有细胞和体液免疫双重缺陷,患者常表现为反复感染。该文报道1例62岁AB型胸腺瘤女性患者,反复细菌、真菌和病毒感染,血清Ig低下,B淋巴细胞缺如、CD4+T淋巴细胞下降、CD4+/CD8+T淋巴细胞比值下降,诊断为Good综合征。该患者同时有粒细胞缺乏、慢性病性贫血,进一步骨髓宏基因组测序发现KIT与ARID1A基因突变,予补充Ig及抗感染治疗,患者症状好转出院。随访患者仍有Ig下降,予定时复查血常规、Ig,并适时补充Ig。Good综合征相对罕见,临床表现复杂,容易延误诊断,临床医师需引起重视。Good’s syndrome(immunodeficiency with thymoma) is an adult immunodeficiency disease characterized by thymoma complicated with hypogammaglobulinemia. Due to dual deficiency of cellular and humoral immune functions, patients constantly present with recurrent infection. This article reported one 62-year-old female patient with type AB thymoma presenting with recurrent bacterial, fungal and viral infection, low serum immunoglobulin, B lymphocyte deficiency, decreased CD4+ T cells and CD4+/CD8+ T ratio, which were consistent with the diagnosis of Good’s syndrome. Meanwhile, the patient was complicated with agranulocytosis and anemia of chronic disease. Furthermore, bone marrow genetic detection revealed mutations in KIT and ARID1 A genes. The patient was discharged after immunoglobulin supplement and anti-infection therapy. During follow-up, serum immunoglobulin level was declined. Routine blood test was performed on a regular basis. Immunoglobulin supplement was given when necessary. Good’s syndrome is relatively rare in clinical practice. It is likely to delay the diagnosis due to complex clinical manifestations, which is worthy of widespread attention from clinicians.

关 键 词：Good综合征 伴胸腺瘤的免疫缺陷症 免疫缺陷 胸腺瘤 粒细胞缺乏 

分 类 号：R593.3[医药卫生—内科学]