摘要
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 explore clinical features,therapeutics and prognosis of X-linked agammaglobulinemia（XLA） .Methods 9 confirmed XLA patients were analyzed by detecting the peripheral level of immunoglobulin and molecules on the cells＇ surface.Clinical features were reviewed.BTK （Bruton＇s tyrosine kinase ） gene sequencing were performed in 2 cases.Results Recurrent upper respiratory infections and pneumonia were found in all patients.Refractory otitis（3/9） and purulent arthritis （4/9） were common.Skin infection（1/9） ,paralysis of legs（1/9） ,dilated cardiomyopathy（1/9） , chronic diarrhea（1/9） and polyarthritis（1/9） appeared in different cases.All but one cases showed normal growth and development.The prominent signs at diagnosis were markedly decreased or absent tonsils and lymph nodes.Concentration of serum immunoglobulins （Igs） and numbers of peripheral B cells in all cases were dramatically decreased.Two cases demonstrated mutations of the BTK genes.Conclusion XLA is preventable and curable.Standard treatment can yield good prognosis.
出处
《山东大学学报（医学版）》
CAS
北大核心
2010年第9期120-123,共4页
Journal of Shandong University:Health Sciences
