X-连锁无丙种球蛋白血症一例报告及文献复习  

A retrospective study of one case of X-linked agammaglobulinemia

作　　者：李德宪[1] 王晓川[2] 谭守勇[1] 劳穗华[1] 陈志宏[1] 王艳红[1] 李方知[1] 梁燕琼[1] 王娟[1] 

机构地区：[1]广州市胸科医院内科,510095 [2]复旦大学附属儿科医院

出　　处：《中华结核和呼吸杂志》2006年第12期796-800,共5页Chinese Journal of Tuberculosis and Respiratory Diseases

基　　金：广州市医药卫生科技项目基金资助(2006-YB-105)

摘　　要：目的探讨X-连锁无丙种球蛋白血症的临床表现、诊断方法和治疗。方法对1例21岁伴毛细血管扩张、B淋巴细胞减少、低丙种球蛋白血症(IgG1.38g/L,IgA0.25g/L,IgM0.17g/L)及反复肺部感染患者,用流式细胞仪检测患者及其母亲的单核细胞Bruton酪氨酸激酶(BTK)表达,并用逆转录-聚合酶链反应(RT-PCR)获得cDNA,PCR产物测序发现BTK基因突变,经相对应部位的DNA序列PCR产物测序进一步证实。患者母亲DNA也在相应部位扩增并测序。结果患者及其母亲细胞内BTK表达分别为96.9%和97.8%。BTK基因点突变位于16外显子(cDNA1706G>A),为错义突变(R525Q)。患者母亲也被证实为携带者,存在相同的基因突变。经高剂量免疫球蛋白替代治疗(2g/kg),1个月后IgG上升至5.79g/L,临床症状、肺功能及影像学表现均明显改善,毛细血管扩张好转。结论明确了1例伴毛细血管扩张的成人X-连锁无丙种球蛋白血症的基因诊断;高剂量免疫球蛋白替代治疗效果好。应提高医务人员对该病的认识。Objective To investigate the clinical manifestations, diagnostic methods and treatment of X-linked agammaglobulinemia （XLA）. Methods Flow cytometric analysis of the peripheral monocles using the anti-BTK antibody was used to characterize the expression of BTK in a 21 year old male patient and his mother. The patient suffered from frequent pneumonia, and was found to be complicated with lymphocytoponia in the B cell populations, hypogammaglobulinemia （ IgG 1.38 g/L, IgA 0. 25 g/L, IgM 0. 17 g/L）and angiotelectasis（ which had not been reported in XLA patients）. Sequencing of the BTK cDNA obtained from the peripheral monocytes of the patient and his mother was performed to confirm the genetic defect. Results The BTK expressions in peripheral monocytes of the patient and his mother were 96. 9% and 97.8% respectively. Sequencing of the BTK gene revealed a missense mutation of R525Q in exon 16, and his mother was confirmed to be an XLA carrier. The patient was treated with immunoglobulin replacement therapy（ 2 g/kg）. One month later, the serum IgG level of the patient was elevated to 5.79 g/L, and the clinical symptoms （included angiotelectasis）, lung function and the CT scan results significantly improved. Conclusion Genetic diagnosis was made for one Chinese XLA adult patient complicated with angiotelectasis. This case suggests that some XLA cases may present angiotelectasis. High dose intravenous immunoglobulin given at 2 g/kg may be of efficacy in severe XLA cases. More attention should be paid to the disease in China.

关 键 词：丙种球蛋白缺乏血症 蛋白质酪氨酸激酶 基因 

分 类 号：R55[医药卫生—血液循环系统疾病]