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伴有发作性眩晕、耳鸣和呕吐且双侧冷热试验反应正常的彭德莱德综合征

Pendred's syndrome with episodic vertigo, tinnitus and vomiting and normal bithermal caloric responses.

作者信息

Das V K

出版信息

J Laryngol Otol. 1987 Jul;101(7):721-2. doi: 10.1017/s0022215100102592.

DOI:10.1017/s0022215100102592
PMID:3625027
Abstract

A case of early-onset bilateral sensori-neural deafness with episodic objective vertigo, tinnitus and vomiting, suggestive of Menière's syndrome, was found to have a diffuse goitre. A Perchlorate discharge test was positive, indicating an organification defect diagnostic of Pendred's syndrome. The case was found to be euthyroid both clinically and on investigations. Tone decay was absent and recruitment was found, thus indicating a cochlear site of lesion. Bithermal caloric tests and clinical tests of vestibular function were within normal limits. X-rays, including petrous tomography, did not show any abnormalities.

摘要

一例早发性双侧感音神经性耳聋伴发作性客观眩晕、耳鸣和呕吐,提示梅尼埃综合征,发现有弥漫性甲状腺肿。高氯酸盐释放试验呈阳性,提示诊断为彭德莱德综合征的有机化缺陷。该病例临床及检查均显示甲状腺功能正常。无音调衰减,有重振现象,提示病变部位在耳蜗。冷热试验及前庭功能临床检查均在正常范围内。包括岩骨断层扫描在内的X线检查未显示任何异常。

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1
Pendred's syndrome with episodic vertigo, tinnitus and vomiting and normal bithermal caloric responses.伴有发作性眩晕、耳鸣和呕吐且双侧冷热试验反应正常的彭德莱德综合征
J Laryngol Otol. 1987 Jul;101(7):721-2. doi: 10.1017/s0022215100102592.
2
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Pendred's syndrome: identification of the genetic defect a century after its recognition.彭德莱德综合征:在其被发现一个世纪后对基因缺陷的鉴定。
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Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.彭德莱德综合征基因的分子分析及内耳的磁共振成像研究对真性彭德莱德综合征的诊断至关重要。
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Eur J Endocrinol. 2001 Jun;144(6):585-93. doi: 10.1530/eje.0.1440585.

引用本文的文献

1
Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.与前庭水管扩大相关的听力损失:来自临床表型、基因型和小鼠模型的机制见解。
Hear Res. 2011 Nov;281(1-2):11-7. doi: 10.1016/j.heares.2011.05.009. Epub 2011 Jun 6.
2
Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome.小鼠内耳中 Pendrin 的定位与功能研究为 Pendred 综合征耳聋的病因提供了见解。
J Assoc Res Otolaryngol. 2003 Sep;4(3):394-404. doi: 10.1007/s10162-002-3052-4.
3
Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear.
彭德莱德综合征基因(Pds)的小鼠直系同源基因的表达模式表明,pendrin在内耳中起关键作用。
Proc Natl Acad Sci U S A. 1999 Aug 17;96(17):9727-32. doi: 10.1073/pnas.96.17.9727.
4
Pendred syndrome.彭德莱德综合征。
J Med Genet. 1996 Dec;33(12):1037-40. doi: 10.1136/jmg.33.12.1037.