摘要
共济失调性毛细血管扩张症(ataxia-telangiectasia,AT)系常染色体隐性遗传病,为共济失调性毛细血管扩张症致病基因(ataxia-telangiectasia mutated,ATM)突变所致,ATM基因编码丝氨酸/苏氨酸蛋白激酶,系磷酸肌醇3-激酶相关激酶家族成员,在DNA的修复中起到重要的作用。ATM基因包括66个外显子,突变形式复杂,包括无义突变、错义突变、剪切位点突变、插入和缺失等。临床表现为进行性小脑萎缩和共济失调、眼球运动障碍、毛细血管扩张、肌张力障碍、易患肿瘤、免疫功能缺陷及对射线敏感等,目前对于出现的临床表现可予支持治疗,但无特异根治手段。AT早期常被忽略,作为儿科医师,对于早期的共济失调,我们需重视,尽早进行基因检测,避免射线暴露。
Ataxia-telangiectasia(AT)is a rare autosomal recessive genetic disorder resulting from ataxia-telangiectasia mutated(ATM)gene mutation.ATM involved in DNA repair.ATM is made up of 66 exons.Its mutation forms are complex,including nonsense mutation,missense mutation,shear site mutation,insertion and deletion,etc.The patients are characterized by progressive cerebellar atrophy and ataxia,disturbance of eye movement,telangiectasia and dystonia,a high risk of cancer and immunodeficiency.These patients are also hypersensitive to radiotherapy.AT is often neglected at the early stage.As pediatricians,we should pay attention to early ataxia and conduct genetic testing as early as possible to avoid radiation exposure.
作者
罗晓娜(综述)
陈育才(审校)
Luo Xiaona;Chen Yucai(Department of Neurology,Shanghai Children′s Hospital,Shanghai Jiao Tong University,Shanghai 200062,China)
出处
《国际儿科学杂志》
2019年第11期810-814,共5页
International Journal of Pediatrics
基金
国家自然科学基金 (81650008)
上海科技基金 (16410723400)
上海市儿童医院人才引进基金,上海卫计委重点课题 (2016ZB0102)
上海重点学科建设 (2017ZZ02019)
上海医院发展中心 (SHDC12015113)。
关键词
共济失调
毛细血管扩张
ATM基因
研究进展
Ataxia
Telangiectasia
Ataxia-telangiectasia mutated gene
Research progress
