X连锁无丙种球蛋白血症1例临床表现及基因检测

目的：提高对X连锁无丙种球蛋白血症的认识。方法通过1例X连锁无丙种球蛋白血症患者的临床表现、基因检测进行回顾性分析。结果患儿有反复肺炎、中耳炎病史，有家族史。当地予抗感染治疗疗效差。查IgM、IgA、IgG明显降低， B细胞缺乏，给予抗感染及静注人免疫球蛋白治疗后查IgM、IgA、IgG、B细胞升高。基因检测结果提示患儿存在BTK基因突变。结论 X连锁无丙种球蛋白血症临床常表现为反复感染，本病诊断多依赖临床和血丙种球蛋白测定， BTK基因突变尚需进一步研究。

Clinical manifestation and genetic testing of 1 case of X-linked agammaglobulinemia

Objective To improve people’s awareness to X-linked agammaglobulinemia（XLA）. Methods A retrospective analysis was carried out to research a patient with X-linked agammaglobulinemia by clinical manifestations and genetic testing. Results The patient had recurrent pneumonia and otitis media, and these diseases had family history in the patient＆#39;s family. The efficacy of anti-infection treatment was poor in local hospital.The testing results showed that the levels of IgM, IgA and IgG lowered obviously and B cell lacked, while after anti-infection treatment and Intravenous injection of human immunoglobulin, IgM, IgA ,IgG and B cell all increased. Genetic testing indicated that the patient had Bruton＆#39;s agammaglobulinemia tyrosine kinase （BTK） mutations. Conclusion The clinical manifestations of XLA are repeated infection. The diagnosis of XLA mainly dependent on clinical manifestations and test of gamma globulin, while the mutation of BTK gene needs further study.