全国20个省份/直辖市部分聋哑学校Waardenburg综合征流行病学抽样调查结果  

Epidemiological spot check on Chinese deaf-and-dumb population about Waardenburg syndrome

作　　者：杨淑芝[1] 孙勍[2] 刘新 袁永一[4] 朱庆文 戴朴[4] 袁慧军[4] 杨伟炎[4] 

机构地区：[1]解放军总医院第一附属医院耳鼻咽喉科,北京100037 [2]武警总医院耳鼻咽喉科,北京100039 [3]解放军16医院五官科,新疆阿勒泰市836501 [4]解放军总医院耳鼻咽喉研究所,北京100853 [5]河北省医科大学第二附属医院耳鼻咽喉科,石家庄050000

出　　处：《中华耳科学杂志》2010年第1期26-28,共3页Chinese Journal of Otology

基　　金：国家自然科学基金面上项目(30371523)资助

摘　　要：目的为了解Waardenburg综合征在中国人群的发病情况,对全国部分地区的聋校或聋儿康复机构进行抽样调查。方法通过填写问卷式调查表获取耳聋的相关信息,绘制家系的遗传图谱;依据详细的体格检查对病例进行分型诊断。结果对全国18省份(自治区)及2个直辖市的30个聋校或聋儿康复机构的在校学生2466名进行抽样调查,共采集到WS病例17例,构成比为0.69%;其中Ⅰ型病例9例,Ⅱ型病例8例,未收集到Ⅲ型和Ⅳ型病例。结论17例WS病例分布于9个省份(自治区),而西北四省及华南两省均未发现病例,可能上述地区是WS病例的低发区。我国先天性聋哑儿童患者中WS病例可能低于国外比例。中国耳聋人群中Ⅰ型和Ⅱ型为WS的常见类型,Ⅲ型和Ⅳ型可能为少见或罕见类型。Objective To explore the incidence of Waardenburg syndrome in Chinese deaf-and-dumb population,a spot check was carried out in several deaf-and-dumb schools.Methods The medical history was taken using a structured questionnaire.General physical examination and otological examination were conducted in these patients.Results There are 17 Waardenburg syndrome cases were found in 2466 deaf-mutes in 9 provinces of China.The composing rate is 0.69%.Nine are type Ⅰ and 8 are type Ⅱ Waardenburg syndrome cases.Conclusion No Waardenburg syndrome case was found in Qinhai,Shanxi,Sinkiang,Ningxia,Guangdong and Guangxi province,these regions maybe have low incidence of Waardenburg syndrome.Perhaps type I and type Ⅱ are the most common type of Waardenburg syndrome in Chinese deaf-and-dumb population.

关 键 词：WAARDENBURG综合征 基因突变 遗传性耳聋 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R181.33[医药卫生—临床医学]