中国全科医学2013，Vol.16Issue(17)：2048-2050,3.DOI:10.3969/j.issn.1007-9572.2013.06.072
先天性耳聋-甲状腺肿综合征一例报告及文献复习
Pendred Syndrome:One Case Report and Literature Review
李一鸣 1孙大强2
作者信息
- 1. 301800天津市,天津市宝坻医院胸外科
- 2. 300051天津市胸科医院胸外科
- 折叠
摘要
Abstract
Hearing Loss - thyroncus syndrome, recognized as Pendred Syndrome ( PDS ), is a rare autosomal recessive inherited disease characterized as thyroncus and sensorineual hearing loss. The pathogenic gene is located at chromosome 7q. Gene mutation leads to pendrin protein dysfunction, therefore to result in related symptoms. This paper points out the pathogeny, clinical manifestations and essentials of diagnoses of PDS and illustrates current research progress and its therapy.关键词
先天性耳聋-甲状腺肿综合征/潘特林/听觉丧失,感音神经性/甲状腺肿Key words
Pendred syndrome/ Pendrin/ Hearing loss, sensorineural/ Goiter分类
医药卫生引用本文复制引用
李一鸣,孙大强..先天性耳聋-甲状腺肿综合征一例报告及文献复习[J].中国全科医学,2013,16(17):2048-2050,3.
