论文部分内容阅读
目的探讨X连锁无丙种球蛋白血症(XLA)的临床表现、实验室检查特点、治疗及预后。方法本文对2005年11月至2009年8月在我院确诊的9例XLA患儿的外周血免疫球蛋白及细胞表面分子进行检测,并结合临床症状及体征进行分析,对2例患儿进行Bruton酪氨酸激酶(BTK)基因测序分析。结果本组9例患儿均有反复上呼吸道感染和肺炎,其中迁延难愈的中耳炎(3/9)及化脓性关节炎(4/9)多见,皮肤感染(1/9)、双下肢瘫痪(1/9)、扩张性心肌病(1/9)、慢性腹泻(1/9)、多关节炎(1/9)可见。诊断时除1例有明显的生长发育落后外,其余患儿发育正常。外周淋巴结及扁桃体较小或难以查到。实验室检查外周血免疫球蛋白<1.5g/L和循环B细胞数<1%。其中2例患儿及母系亲属经BTK基因分析证实存在突变。结论 XLA可防可治,规范治疗,预后较好。
Objective To investigate the clinical manifestations, laboratory features, treatment and prognosis of X-linked non-IgA. Methods In this study, peripheral blood immunoglobulin and cell surface molecules of 9 cases of XLA diagnosed in our hospital from November 2005 to August 2009 were detected. Combined with clinical symptoms and signs, 2 cases of children Bruton tyrosine kinase (BTK) gene sequencing analysis. Results The group of 9 patients had recurrent upper respiratory tract infection and pneumonia. Among them, otitis media with delayed and refractory otitis media (3/9) and septic arthritis (4/9) were more common, with skin infection (1/9), lower extremities Paralysis (1/9), dilated cardiomyopathy (1/9), chronic diarrhea (1/9), polyarthritis (1/9). In addition to the diagnosis of a case of significant growth and development of backward, the remaining children with normal development. Peripheral lymph nodes and tonsils smaller or difficult to find. Laboratory tests of peripheral blood immunoglobulin <1.5g / L and circulating B cells <1%. Two of the children and their maternal relatives confirmed the presence of a mutation by BTK gene analysis. Conclusion XLA can prevent and cure, standard treatment, the prognosis is good.