陈晓轶;朱永杰;索军芳;王莉;陈国洪;

• 1:河南省儿童医院郑州大学附属儿童医院郑州儿童医院

摘要(Abstract)：

目的分析1例共济失调毛细血管扩张症的临床特征及基因突变类型。方法收集1例共济失调毛细血管扩张症患者临床资料,并提取患者及其父母、兄长外周静脉血,采用全外显子测序和Sanger测序进行ATM基因突变分析。结果该例共济失调毛细血管扩张综合征患儿临床以进行性加重小脑共济失调、肌张力障碍、反复呼吸道感染、生长发育落后、球结膜毛细血管扩张,辅助检查结果示IgA缺乏,T淋巴细胞减少,血清甲胎蛋白、癌胚抗原、神经元烯醇化酶水平增高,头颅MRI示小脑萎缩。全外显子测序结果显示,患儿存在复合杂合突变c.5435(exon36)_c.5436(exon36)insT;p.A1812Afs*11,移码突变,该突变来源于父亲,c.8672-1(IVS59)delG,剪切位点上的插入缺失突变,该突变来源于母亲。结论本例患儿具有典型共济失调毛细血管扩张综合征的临床特征及辅助检查结果,ATM基因检测有助于明确诊断,早期诊断、多学科综合治疗一定程度上提高了患儿的生活质量。

关键词(KeyWords)： 共济失调毛细血管扩张症;Louis-Bar综合征;免疫缺陷病;临床特征;ATM基因;常染色体隐性遗传性疾病

Abstract:

Keywords:

基金项目(Foundation): 河南省医学科技攻关计划联合共建项目(编号:2018020604)

作者(Authors): 陈晓轶;朱永杰;索军芳;王莉;陈国洪;

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