• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

听力损失和前庭导水管扩大患者的甲状腺评估。

Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.

作者信息

Madeo Anne C, Manichaikul Ani, Reynolds James C, Sarlis Nicholas J, Pryor Shannon P, Shawker Thomas H, Griffith Andrew J

机构信息

Social and Behavioral Research Branch, National Human GenomeResearch Institute, National Institutes of Health, Bethesda, MD 20892-3320, USA.

出版信息

Arch Otolaryngol Head Neck Surg. 2009 Jul;135(7):670-6. doi: 10.1001/archoto.2009.66.

DOI:10.1001/archoto.2009.66
PMID:19620588
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2941509/
Abstract

OBJECTIVE

To evaluate thyroid structure and function in patients with enlargement of the vestibular aqueduct (EVA) and sensorineural hearing loss.

DESIGN

Prospective cohort survey.

SETTING

National Institutes of Health Clinical Center, a federal biomedical research facility.

PATIENTS

The study population comprised 80 individuals, aged 1.5 to 59 years, ascertained on the basis of EVA and sensorineural hearing loss.

MAIN OUTCOME MEASURES

Associations among the number of mutant alleles of SLC26A4; volume and texture of the thyroid; percentage of iodine 123 ((123)I) discharged at 120 minutes after administration of perchlorate in the perchlorate discharge test; and peripheral venous blood levels of thyrotropin, thyroxine, free thyroxine, triiodothyronine, thyroglobulin, antithyroid peroxidase and antithyroglobulin antibodies, and thyroid-binding globulin.

RESULTS

Thyroid volume is primarily genotype dependent in pediatric patients but age dependent in older patients. Individuals with 2 mutant SLC26A4 alleles discharged a significantly (P < or = .001) greater percentage of (123)I compared with those with no mutant alleles or 1 mutant allele. Thyroid function, as measured by serologic testing, is not associated with the number of mutant alleles.

CONCLUSIONS

Ultrasonography with measurement of gland volume is recommended for initial assessment and follow-up surveillance of the thyroid in patients with EVA. Perchlorate discharge testing is recommended for the diagnostic evaluation of patients with EVA along with goiter, nondiagnostic SLC26A4 genotypes (zero or 1 mutant allele), or both.

摘要

目的

评估前庭导水管扩大（EVA）和感音神经性听力损失患者的甲状腺结构和功能。

设计

前瞻性队列研究。

地点

国立卫生研究院临床中心，一家联邦生物医学研究机构。

患者

研究人群包括80名年龄在1.5至59岁之间的个体，基于EVA和感音神经性听力损失确定。

主要观察指标

SLC26A4突变等位基因数量；甲状腺的体积和质地；高氯酸盐释放试验中给予高氯酸盐后120分钟时123碘（123I）的释放百分比；以及促甲状腺激素、甲状腺素、游离甲状腺素、三碘甲状腺原氨酸、甲状腺球蛋白、抗甲状腺过氧化物酶和抗甲状腺球蛋白抗体以及甲状腺结合球蛋白的外周静脉血水平。

结果

甲状腺体积在儿科患者中主要取决于基因型，而在老年患者中取决于年龄。与无突变等位基因或1个突变等位基因的个体相比，具有2个SLC26A4突变等位基因的个体释放的123I百分比显著更高（P≤0.001）。通过血清学检测测量的甲状腺功能与突变等位基因数量无关。

结论

建议对EVA患者进行甲状腺超声检查并测量腺体体积，以进行初始评估和随访监测。对于伴有甲状腺肿、SLC26A4基因型诊断不明确（零个或1个突变等位基因）或两者皆有的EVA患者，建议进行高氯酸盐释放试验以进行诊断评估。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd4b/2941509/180e1a25b507/nihms-233486-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd4b/2941509/180e1a25b507/nihms-233486-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd4b/2941509/180e1a25b507/nihms-233486-f0002.jpg

相似文献

1
Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.听力损失和前庭导水管扩大患者的甲状腺评估。
Arch Otolaryngol Head Neck Surg. 2009 Jul;135(7):670-6. doi: 10.1001/archoto.2009.66.
2
Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.感音神经性耳聋伴前庭导水管扩大患者中SLC26A4（Pendrin）基因突变
J Endocrinol Invest. 2004 May;27(5):430-5. doi: 10.1007/BF03345286.
3
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.42例 Pendred 综合征及非综合征性前庭导水管扩大患者的甲状腺表型分析。
Thyroid. 2014 Apr;24(4):639-48. doi: 10.1089/thy.2013.0164. Epub 2014 Jan 20.
4
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.SLC26A4 相关的 CEVA 单体型与前庭水管扩大患者的表型相关。
BMC Med Genet. 2019 Jul 2;20(1):118. doi: 10.1186/s12881-019-0853-4.
5
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.SLC26A4 基因突变检测在单侧前庭水管扩大中的应用。
JAMA Otolaryngol Head Neck Surg. 2013 Sep;139(9):907-13. doi: 10.1001/jamaoto.2013.4185.
6
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.与前庭导水管扩大相关的SLC26A4基因分型和表型。
Cell Physiol Biochem. 2011;28(3):545-52. doi: 10.1159/000335119. Epub 2011 Nov 18.
7
Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.与扩大的前庭导水管以及SLC26A4基因的零个或一个突变等位基因相关的听力损失。
Laryngoscope. 2017 Jul;127(7):E238-E243. doi: 10.1002/lary.26418. Epub 2016 Nov 15.
8
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.前庭导水管家族性扩大的非典型分离模式。
Laryngoscope. 2016 Jul;126(7):E240-7. doi: 10.1002/lary.25737. Epub 2015 Oct 20.
9
Hereditary hearing loss with thyroid abnormalities.伴有甲状腺异常的遗传性听力损失
Adv Otorhinolaryngol. 2011;70:43-49. doi: 10.1159/000322469. Epub 2011 Feb 24.
10
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.SLC26A4 基因型与大前庭水管内耳的听力损失相关，而不是与耳蜗影像学结构相关。
Laryngoscope. 2010 Feb;120(2):384-9. doi: 10.1002/lary.20722.

引用本文的文献

1
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.与听力损失和前庭导水管扩大相关的 CHD7 变异体。
Hum Genet. 2023 Oct;142(10):1499-1517. doi: 10.1007/s00439-023-02581-x. Epub 2023 Sep 5.
2
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.SLC26A4相关听力损失的遗传结构与表型格局
Hum Genet. 2022 Apr;141(3-4):455-464. doi: 10.1007/s00439-021-02311-1. Epub 2021 Aug 3.
3
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.

本文引用的文献

1
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?与非综合征性听力损失和前庭导水管扩大相关的功能减退型SLC26A4变异：基因型-表型相关性还是巧合的多态性？
Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884.
2
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.SLC26A4基因在白种人群中常与伴有前庭导水管扩大的非综合征性听力损失有关。
Eur J Hum Genet. 2006 Jun;14(6):773-9. doi: 10.1038/sj.ejhg.5201611.
3
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
SLC26A4 相关的 CEVA 单体型与前庭水管扩大患者的表型相关。
BMC Med Genet. 2019 Jul 2;20(1):118. doi: 10.1186/s12881-019-0853-4.
4
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.SLC26A4 变异体的功能测试-奥地利扩大前庭水管队列的临床和分子分析。
Int J Mol Sci. 2018 Jan 10;19(1):209. doi: 10.3390/ijms19010209.
5
A common -linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.一种共同连锁的单体型，其下是非综合征型听力损失伴前庭水管扩大。
J Med Genet. 2017 Oct;54(10):665-673. doi: 10.1136/jmedgenet-2017-104721. Epub 2017 Aug 5.
6
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.前庭导水管家族性扩大的非典型分离模式。
Laryngoscope. 2016 Jul;126(7):E240-7. doi: 10.1002/lary.25737. Epub 2015 Oct 20.
7
mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.与前庭导水管扩大相关的听力损失的突变检测
World J Otorhinolaryngol. 2013 May 28;3(2):26-34. doi: 10.5319/wjo.v3.i2.26.
8
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.与前庭导水管扩大相关的SLC26A4基因分型和表型。
Cell Physiol Biochem. 2011;28(3):545-52. doi: 10.1159/000335119. Epub 2011 Nov 18.
9
Influence of dietary iodine deficiency on the thyroid gland in Slc26a4-null mutant mice.膳食碘缺乏对Slc26a4基因敲除突变小鼠甲状腺的影响。
Thyroid Res. 2011 Jun 20;4(1):10. doi: 10.1186/1756-6614-4-10.
10
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.SLC26A4 基因型与大前庭水管内耳的听力损失相关，而不是与耳蜗影像学结构相关。
Laryngoscope. 2010 Feb;120(2):384-9. doi: 10.1002/lary.20722.
伴有前庭导水管扩大（EVA）的听力损失中SLC26A4/PDS基因-表型相关性： Pendred综合征和非综合征性EVA是不同临床和遗传实体的证据
J Med Genet. 2005 Feb;42(2):159-65. doi: 10.1136/jmg.2004.024208.
4
Effect of blood collection tubes on total triiodothyronine and other laboratory assays.采血管对总三碘甲状腺原氨酸及其他实验室检测的影响。
Clin Chem. 2005 Feb;51(2):424-33. doi: 10.1373/clinchem.2004.043349. Epub 2004 Dec 2.
5
Reference values of thyroid volume in a healthy, non-iodine-deficient Spanish population.健康、非碘缺乏的西班牙人群甲状腺体积的参考值。
Horm Metab Res. 2004 Sep;36(9):645-9. doi: 10.1055/s-2004-825901.
6
New reference values for thyroid volume by ultrasound in iodine-sufficient schoolchildren: a World Health Organization/Nutrition for Health and Development Iodine Deficiency Study Group Report.碘充足地区学龄儿童甲状腺超声测量体积的新参考值：世界卫生组织/健康与发展营养碘缺乏研究组报告
Am J Clin Nutr. 2004 Feb;79(2):231-7. doi: 10.1093/ajcn/79.2.231.
7
Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred's syndrome.一名患有彭德莱德综合征的患者，长期存在甲状腺肿，发生间变转化的侵袭性转移性滤泡状甲状腺癌。
Thyroid. 2001 Oct;11(10):981-8. doi: 10.1089/105072501753211073.
8
Large vestibular aqueduct in distal renal tubular acidosis. High-resolution MR in three cases.远端肾小管酸中毒中的大前庭导水管。三例高分辨率磁共振成像
Acta Radiol. 2001 May;42(3):320-2. doi: 10.1080/028418501127346710.
9
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome.彭德莱综合征中甲状腺疾病的患病率、发病年龄及自然病史。
J Med Genet. 1999 Aug;36(8):595-8.
10
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.与前庭导水管扩大相关的非综合征性听力损失是由PDS基因突变引起的。
Hum Genet. 1999 Feb;104(2):188-92. doi: 10.1007/s004390050933.