X-连锁无丙种球蛋白血症患儿临床表型和基因诊断分析  

Clinical Phenotype and Genetic Diagnosis Analysis of X-Linked Agammaglobulinemia

作　　者：王艳琼[1] 崔玉霞[1] 王予川[1] 张志勇[2] 赵晓东[2] 蒋利萍[2] 

机构地区：[1]贵州省人民医院儿科,贵阳550002 [2]重庆医科大学附属儿童医院免疫室,重庆400014

出　　处：《实用儿科临床杂志》2012年第9期684-686,共3页Journal of Applied Clinical Pediatrics

基　　金：贵州省科技厅攻关项目[黔科合S字(2007)1046]

摘　　要：目的分析3例X-连锁无丙种球蛋白血症(X-linked agammaglobulinemia,XLA)的临床表型特点及Bruton's酪氨酸激酶(BTK)基因变异情况,以提高临床医师对XLA的认识。方法收集本组3例XLA患儿外周静脉血,测定其血清Ig水平和淋巴细胞亚群表达情况,采用RT-PCR和测序的方法分析患儿及母亲BTK基因变异情况,并总结其临床特征。结果在临床特征方面3例均为男性患儿,诊断XLA时的年龄分别为4岁、12岁6个月和2岁2个月,平均诊断年龄6岁3个月。3例患儿临床均表现为反复感染,如患中耳炎、鼻窦炎、反复全身脓疱疹、脓胸、细菌性关节炎、细菌性脑膜炎等,3例诊断时均表现为营养、生长发育较差,周围淋巴组织发育不良,扁桃体和淋巴结很小或难以查及;实验室检查血清Ig和循环B淋巴细胞明显降低;在基因诊断方面3例均发现存在BTK基因突变,例1为外显子9的949位G缺失,例2为外显子17的错义突变,例3为外显子15的错义突变,对例2、例3患儿母亲进行BTK基因分析,发现均为携带者,存在相同的基因突变。结论本组3例中国贵州籍XLA患儿诊断时年龄较大,临床主要表现为不同部位的反复化脓性细菌感染,在临床表现基础上通过BTK基因分析有助于XLA患儿的进一步明确诊断,并且有利于发现携带者和进行遗传咨询。Objective To analyze clinical phenotype characteristics and Bruton＇s tyrosine kinase （BTK） genetic variations of 3 cases of X -linked agammaglobulinemia（XLA） , in order to improve the understanding of XLA among clinical physicians. Methods Based on clinical findings, 3 suspected XLA patients were confirmed by determining serum immunoglobulins levels, aehroacyte subgroup expression, reverse transcriptase - polymerase chain reaction, the expression of BTK and gene analysis of BTK. Results The age of onset of all the 3 male patients were from 2 years and 2 months to 12 years and 6 months. The mean age at diagnosis was 6 years and 3 months, Recurrent infections were seen in all patients, such as otitis media, sinusitis, and repeatedly systemic pustules, pyothorax, suppurative arthritis, purulent meningi- tis. The prominent signs at diagnosis were dystrophia, growth and developmental retardation and markedly decreased or absent tonsils and lymph nodes. Concentration of aU classes of serum immunoglobulins and the number of B ceils in the peripheral circulation were drama-tically decreased. The 3 cases were found BTK gene mutation. Mothers of example 2,3 were carriers of the same genetic mutations. Conclusions The age at diagnosis of this reported group is older. Clinical symptoms display repeated suppurative bacterial infections of different parts. Based on the clinical manifestations, XLA patients can be diagnosed by further genetic analysis of BTK. It is good for finding BTK gene carriers and eenetic consultation.

关 键 词：X-连锁无丙种球蛋白血症 临床表型 Bruton's酪氨酸激酶 基因分析 

分 类 号：R725.5[医药卫生—儿科]