【摘要】 目的探讨X连锁无丙种球蛋白血症(XLA)的临床特点及检测其致病基因BTK的临床意义。方法回顾性分析1例X连锁无丙种球蛋白血症的临床表现、实验室检查及基因检测的特点,同时复习XLA的流行病学及发病机制等相关文献,尤其是有关XLA基因检测的研究。结果 1例XLA患儿反复感染,表现为肺炎、急性支气管肺炎并伴有感音神经性耳聋。实验室检查,超敏C反应蛋白升高(103 mg/L),各种免疫球蛋白均下降,T淋巴细胞百分比升高,CD19+B淋巴细胞绝对值及百分比均为0。基因检测,BTK基因EXON7至EXON19缺失,下游基因TIMM8A也缺失。结论 XLA患者临床表现为反复感染,免疫球蛋白下降,外周血B细胞下降。检测BTK基因可帮助临床诊断。更多还原

【Abstract】 Objective To investigate the clinical features of X-linked agammaglobulinemia(XLA),and to explore the importance of genetic diagnosis to XLA.Methods The clinical features,laboratory examinations and genetic testing of a case of XLA were retrospectively analyzed.Meanwhile,the epidemiology and mechanisms,especially the genetic testing of XLA in the relevant literatures were reviewed.Results The XLA patient infected repeatedly with the clinical manifestations of pneumonia and bronchial pneumonia and had a progressive sensorineural deafness.The level of high-sensitivity C-reactive protein(hs-CRP) of the patient was increased(103 mg/L) and various immunoglobulins were decreased.The percentages of T lymphocyte cells were elevated.Both the percentage and the absolute number of CD19+ B lymphocytes were zero.The results of genetic testing indicated that there was a large deletion including from exon7 to exon19 of BTK gene,and the whole TIMM8A gene.Conclusions The clinical manifestation of the patient with XLA showed recurrent infections with decreased immunoglobulin and B lymphocytes in peripheral blood.Genetic testing of BTK gene is helpful for the clinical diagnosis.更多还原