听力学及言语疾病杂志文献:Pendred综合征

本站文献皆为网友上传共享免费提供给大家,如有侵权,请告知我们尽快删除!
后下载此文档!
听力学及言语疾病杂志
JOURNAL OF AUDIOLOGY AND SPEECH PATHOLOGY
2003 Vol.11 No.4 P.313-314
Pendred综合征
王轶 
曹克利 
文章编号:1006-7299(2003)04-0313-02
  Pendred综合征(Pendred's syndrome,PS)又名家族性甲状腺肿先天性聋综合征,主要表现为先天性聋、甲状腺肿、碘有机化障碍,呈常染色体隐性遗传.S是最常见的一种综合征性耳聋,在遗传性聋中占10%[1],在新生儿中发病率1/25000,在人群中发病率8/100 000,占先天性聋的7.5%.1896年英国全科医生Pendred首次报道本病[2].……
作者单位:王轶(中国医学科学院中国协和医科大学北京协和医院耳鼻咽喉科,北京,100730) 
     曹克利(中国医学科学院中国协和医科大学北京协和医院耳鼻咽喉科,北京,100730) 
参考文献:
[1]Trevino OG, Arseven OK, CebaLlos CJ, et al. Clinical and molecular analysis of three Mexican families with Pendred' s syndrome[J] .Euro J Endocrinol, 2001,144: 585.
[2]Vaidya B, Coffey R, Coyle B, et al. Concurrence of Pendred syndrone,autoimmune thyroiditis and simple goiter in one family[ J] .J Clin Endocrinol Metab, 1999,84:2 736.
[3]Abe S, Usami S, Hoover DM, et al. Fluctuating seneorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene[ J ]. Am J Med Genet, 1999,82: 322.
[4]Phelps PD, Coffey RA, Trembath RC, et al. Radiological malformations of the ear in Pendred syndrome[J]. Clin Radiol,1998,53:268.
[5]Bradley DJ, Towle HC, Young WSⅢ. Alpha and beta thyroid hormone receptor(TR) gene expression during auditory neurogenesis: evidence for Trisoform - specific transcriptional regulation in vivo[ J]. Proc Natl Acad Sci USA, 1994,91:439.
[6]Cremers CWRJ, Bolder C, Admiraal RJC, et al. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome[ J]. Arch Otorhinolaryngol Head Neck Surgery, 1998,124:501.
[7]Kabakkaya Y,Bakan E, Yigitoglu MR, et al. Pendred's syndrome[J].Ann Otol Rhinol Laryngol, 1993,102:285.
[8]Reardon W, Coffey R, Chowdhury T,et al. Prevalance,age of onset,and natural history of thyroid disease in Pendred syndrome[J] .J Med Genet, 1999,36:595.
[9]Gausden E, Armour JA, Coyle B,et al. Thyroid peroxidase: evidence for disease gene exclution in Pendred' s syndrome[J]. Clin Endocrinol,1996,44:441.
[10]Reardon W, Coffey R, Pembrey ME,et al. Pitsfalls in practice:diagnosis and misdiagnosis in Pendred syndrome[ J] .J Audiol Med, 1997,6:1.
[11]Li XC,Everett LA,Lalwani AK, et al.A mutation in PDS causes non- syndromic deafness[J]. Nature Genetics, 1998,18:215
[12]Usami S,Abe S, Weston MD,et al. Non - syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations[J]. Human Genetics, 1999,104:188.