摘要
先天性耳聋-甲状腺肿综合征又称Pendred综合征(PDS),是一种罕见疾病,是以甲状腺肿大、感音神经性耳聋为主要特征的常染色体隐性遗传病。致病基因位于染色体7q,基因变异导致pendrin(潘特林)蛋白功能障碍,进而引起相应症状。本文结合相关文献指出了PDS的病因、临床表现及诊断要点,说明了当前研究进展及治疗方法,使临床医师对该病的认识进一步加强。
Hearing Loss -thyroncus syndrome, recognized as Pendred Syndrome （PDS）, is a rare autosomal reces-sive 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.
出处
《中国全科医学》
CAS
CSCD
北大核心
2013年第17期2048-2050,共3页
Chinese General Practice
