Pendred综合征临床特点及病因研究进展

左路杰;张勋;袁永一;

1:河北医科大学第三医院耳鼻咽喉头颈外科

2:解放军总医院耳鼻咽喉头颈外科

摘要
<正>Pendred综合征又称耳聋-甲状腺肿综合征,是一种以家族性甲状腺肿,先天性耳聋、碘有机化障碍为特征的常染色体隐性遗传性疾病。Pendred综合征为一种甲状腺激素有机合成障碍疾病,最早为英国全科医生Pendred于1896年首次报道。有报道称本病发病率为1∶153 000至7.5~10∶100 000不等[1,2],大约占先天性聋的7.5%[3],是引起耳聋综合征的主要原因之一。虽然该疾病的发病率并不低,但临床上对此病认识不足,容易漏诊。
关键词
基金项目(Foundation):
国家自然科学基金青年项目(30801285);; 北京市科技新星计划B类,(2009B34)
作者
左路杰;张勋;袁永一;
参考文献

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左路杰张勋袁永一